Note: In this version of the database, the structural analysis is based on the impact of a variant on the protein tertiary structure. The missense variant may disrupt additional features (e.g. protein-protein interactions or functional sites) that we are currently not capturing.
If your variant is not present in the table below click here to use our missense3d website to analyse it using your own 3D structural model.
Download Report | Uniprot Position | PDB/Model Position | Residue Wildtype | Residue Mutant | Structure | Structure Type | Missense3D Prediction | Structural damage predicted | Humsavar Annotation | ClinVar Annotation | MAF score | dbSNP | Ensemble ID | SIFT prediction(score) | PolyPhen-2 prediction(score) | Interface(source RCSB) | Pfam domain | Location (GRCh37) | Location (GRCh38) | CCR percentile | GERP score |
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129 | 129 | ALA | GLY | 5a5h_H | PDB | Neutral | none predicted | Benign | - | - | - | - | tolerated(0.34) | benign(0.225) | - | Thioredoxin_16 | - | - | - | - |
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166 | 166 | LEU | ILE | 5a5h_H | PDB | Neutral | none predicted | Benign | - | 0.0069 | rs34525431 | ENST00000223029 | tolerated(0.17) | benign(0.042) | Yes | Thioredoxin_16 | 7:6057598 | 7:6017967 | 0 | 2.88 |
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209 | 209 | GLY | SER | 5a5h_H | PDB | Damaging | Disallowed phi/psi; Gly in a bend | Unclassified | - | - | rs982080297 | ENST00000223029 | deleterious(0) | probably_damaging(1) | Yes | - | 7:6062984 | 7:6023353 | 20 | 4.49 |
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6 | 6 | VAL | LEU | 6ild_C | PDB | Neutral | none predicted | - | Not_provided | 0.00108 | rs139842556 | ENST00000223029 | tolerated(0.1) | benign(0.04) | Yes | AIMP2_LysRS_bd | 7:6049010 | 7:6009379 | - | 4.32 |
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2 | 2 | PRO | ARG | 6ild_C | PDB | Neutral | none predicted | - | - | - | rs1401543115 | ENST00000223029 | deleterious(0) | probably_damaging(0.981) | Yes | AIMP2_LysRS_bd | 7:6048999 | 7:6009368 | - | 5.2 |
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3 | 3 | MET | THR | 6ild_C | PDB | Neutral | none predicted | - | - | - | rs1408389683 | ENST00000223029 | deleterious(0) | possibly_damaging(0.836) | Yes | AIMP2_LysRS_bd | 7:6049002 | 7:6009371 | - | 5.2 |
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4 | 4 | TYR | HIS | 6ild_C | PDB | Neutral | none predicted | - | - | 4.073e-06 | rs767031199 | ENST00000223029 | deleterious(0) | probably_damaging(0.961) | Yes | AIMP2_LysRS_bd | 7:6049004 | 7:6009373 | - | 4.03 |
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5 | 5 | GLN | HIS | 6ild_C | PDB | Neutral | none predicted | - | - | 8.554e-05 | rs754373311 | ENST00000223029 | deleterious(0.01) | possibly_damaging(0.66) | Yes | AIMP2_LysRS_bd | 7:6049009 | 7:6009378 | - | 5.2 |
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8 | 8 | PRO | SER | 6ild_C | PDB | Neutral | none predicted | - | - | 4.075e-06 | rs377537932 | ENST00000223029 | deleterious(0.02) | benign(0.213) | Yes | AIMP2_LysRS_bd | 7:6049016 | 7:6009385 | - | 4.32 |
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8 | 8 | PRO | ARG | 6ild_C | PDB | Neutral | none predicted | - | - | 4.075e-06 | rs1434767478 | ENST00000223029 | deleterious(0) | possibly_damaging(0.895) | Yes | AIMP2_LysRS_bd | 7:6049017 | 7:6009386 | - | 5.2 |
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9 | 9 | TYR | HIS | 6ild_C | PDB | Neutral | none predicted | - | - | 4.077e-06 | rs371044703 | ENST00000223029 | deleterious(0.01) | possibly_damaging(0.742) | Yes | AIMP2_LysRS_bd | 7:6049019 | 7:6009388 | - | 5.2 |
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10 | 10 | HIS | GLN | 6ild_C | PDB | Neutral | none predicted | - | - | - | rs777401869 | ENST00000223029 | tolerated(0.1) | benign(0.007) | Yes | AIMP2_LysRS_bd | 7:6049024 | 7:6009393 | - | 2.38 |
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11 | 11 | GLY | ALA | 6ild_C | PDB | Damaging | Disallowed phi/psi | - | - | - | rs1049013110 | ENST00000223029 | tolerated(0.18) | benign(0.007) | Yes | AIMP2_LysRS_bd | 7:6049026 | 7:6009395 | - | 0.95 |
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12 | 12 | GLY | SER | 6ild_C | PDB | Damaging | Gly in a bend | - | - | 4.078e-06 | rs1367182950 | ENST00000223029 | tolerated(0.59) | benign(0.031) | Yes | AIMP2_LysRS_bd | 7:6049028 | 7:6009397 | - | 3.4 |
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13 | 13 | GLY | ASP | 6ild_C | PDB | Damaging | Gly in a bend | - | - | 0.0 | rs1305890535 | ENST00000223029 | tolerated(0.86) | benign(0) | Yes | AIMP2_LysRS_bd | 7:6049032 | 7:6009401 | - | 4.32 |
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15 | 15 | PRO | ALA | 6ild_C | PDB | Neutral | none predicted | - | - | 0.0001183 | rs145891242 | ENST00000223029 | tolerated(0.57) | benign(0.006) | Yes | AIMP2_LysRS_bd | 7:6049037 | 7:6009406 | - | 0.41 |
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15 | 15 | PRO | LEU | 6ild_C | PDB | Neutral | none predicted | - | - | 4.079e-06 | rs745755330 | ENST00000223029 | tolerated(0.41) | benign(0.001) | Yes | AIMP2_LysRS_bd | 7:6049038 | 7:6009407 | - | 3.17 |
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16 | 16 | LEU | ILE | 6ild_C | PDB | Neutral | none predicted | - | - | 8.159e-06 | rs768787708 | ENST00000223029 | deleterious(0.03) | possibly_damaging(0.483) | Yes | AIMP2_LysRS_bd | 7:6049040 | 7:6009409 | - | 4.32 |
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16 | 16 | LEU | PHE | 6ild_C | PDB | Neutral | none predicted | - | - | 8.159e-06 | rs768787708 | ENST00000223029 | deleterious(0.03) | possibly_damaging(0.483) | Yes | AIMP2_LysRS_bd | 7:6049040 | 7:6009409 | - | 4.32 |
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17 | 17 | ARG | CYS | 6ild_C | PDB | Neutral | none predicted | - | - | 4.081e-06 | rs1205665747 | ENST00000223029 | tolerated(0.1) | benign(0) | Yes | AIMP2_LysRS_bd | 7:6049043 | 7:6009412 | - | 3.26 |
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17 | 17 | ARG | HIS | 6ild_C | PDB | Neutral | none predicted | - | - | 8.163e-06 | rs774238548 | ENST00000223029 | tolerated(0.28) | benign(0) | Yes | AIMP2_LysRS_bd | 7:6049044 | 7:6009413 | - | -2.94 |
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18 | 18 | VAL | GLU | 6ild_C | PDB | Neutral | none predicted | - | - | 4.082e-06 | rs1254470488 | ENST00000223029 | tolerated(0.07) | benign(0.023) | Yes | AIMP2_LysRS_bd | 7:6049047 | 7:6009416 | - | 4.03 |
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18 | 18 | VAL | MET | 6ild_C | PDB | Neutral | none predicted | - | - | 4.082e-06 | rs772489394 | ENST00000223029 | deleterious(0.01) | possibly_damaging(0.748) | Yes | AIMP2_LysRS_bd | 7:6049046 | 7:6009415 | - | 5.2 |
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20 | 20 | LEU | PHE | 6ild_C | PDB | Neutral | none predicted | - | - | 4.087e-06 | rs761170066 | ENST00000223029 | deleterious(0.01) | probably_damaging(0.999) | Yes | AIMP2_LysRS_bd | 7:6049052 | 7:6009421 | - | 4.21 |
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21 | 21 | PRO | LEU | 6ild_C | PDB | Neutral | none predicted | - | - | 1.226e-05 | rs777224660 | ENST00000223029 | deleterious(0) | probably_damaging(1) | Yes | AIMP2_LysRS_bd | 7:6049056 | 7:6009425 | - | 5.09 |
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21 | 21 | PRO | ALA | 6ild_C | PDB | Neutral | none predicted | - | - | 4.087e-06 | rs766798963 | ENST00000223029 | deleterious(0) | probably_damaging(0.999) | Yes | AIMP2_LysRS_bd | 7:6049055 | 7:6009424 | - | 5.09 |
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22 | 22 | THR | SER | 6ild_C | PDB | Neutral | none predicted | - | - | 4.094e-06 | rs563884789 | ENST00000223029 | deleterious(0) | possibly_damaging(0.837) | Yes | AIMP2_LysRS_bd | 7:6049059 | 7:6009428 | - | 5.09 |
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22 | 22 | THR | ILE | 6ild_C | PDB | Neutral | none predicted | - | - | 4.094e-06 | rs563884789 | ENST00000223029 | deleterious(0) | possibly_damaging(0.837) | Yes | AIMP2_LysRS_bd | 7:6049059 | 7:6009428 | - | 5.09 |
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22 | 22 | THR | ALA | 6ild_C | PDB | Neutral | none predicted | - | - | 4.096e-06 | rs764813325 | ENST00000223029 | deleterious(0.04) | benign(0.356) | Yes | AIMP2_LysRS_bd | 7:6049058 | 7:6009427 | - | 3.93 |
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23 | 23 | CYS | GLY | 6ild_C | PDB | Neutral | none predicted | - | - | 4.094e-06 | rs1371935734 | ENST00000223029 | deleterious(0) | possibly_damaging(0.755) | Yes | AIMP2_LysRS_bd | 7:6049061 | 7:6009430 | - | 5.13 |
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23 | 23 | CYS | SER | 6ild_C | PDB | Neutral | none predicted | - | - | 4.094e-06 | rs1371935734 | ENST00000223029 | deleterious(0) | possibly_damaging(0.755) | Yes | AIMP2_LysRS_bd | 7:6049061 | 7:6009430 | - | 5.13 |
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24 | 24 | MET | VAL | 6ild_C | PDB | Neutral | none predicted | - | - | - | rs1178019019 | ENST00000223029 | deleterious(0) | possibly_damaging(0.689) | Yes | AIMP2_LysRS_bd | 7:6049064 | 7:6009433 | - | 5.13 |
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24 | 24 | MET | ARG | 6ild_C | PDB | Neutral | none predicted | - | - | - | rs1324538398 | ENST00000223029 | deleterious(0) | benign(0.058) | Yes | AIMP2_LysRS_bd | 7:6049065 | 7:6009434 | - | 5.13 |
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24 | 24 | MET | THR | 6ild_C | PDB | Neutral | none predicted | - | - | - | rs1324538398 | ENST00000223029 | deleterious(0) | benign(0.058) | Yes | AIMP2_LysRS_bd | 7:6049065 | 7:6009434 | - | 5.13 |
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24 | 24 | MET | ILE | 6ild_C | PDB | Neutral | none predicted | - | - | 1.231e-05 | rs763789143 | ENST00000223029 | deleterious(0.02) | possibly_damaging(0.756) | Yes | AIMP2_LysRS_bd | 7:6049066 | 7:6009435 | - | 4.24 |
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25 | 25 | TYR | HIS | 6ild_C | PDB | Neutral | none predicted | - | - | - | rs1163035440 | ENST00000223029 | deleterious(0) | probably_damaging(0.991) | Yes | AIMP2_LysRS_bd | 7:6049067 | 7:6009436 | - | 5.13 |
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25 | 25 | TYR | SER | 6ild_C | PDB | Neutral | none predicted | - | - | 1.231e-05 | rs147658637 | ENST00000223029 | deleterious(0) | probably_damaging(0.988) | Yes | AIMP2_LysRS_bd | 7:6049068 | 7:6009437 | - | 5.13 |
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26 | 26 | ARG | GLY | 6ild_C | PDB | Neutral | none predicted | - | - | - | rs757077360 | ENST00000223029 | deleterious(0) | benign(0.203) | Yes | AIMP2_LysRS_bd | 7:6049070 | 7:6009439 | - | 4.25 |
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27 | 27 | LEU | PHE | 6ild_C | PDB | Neutral | none predicted | - | - | - | rs1410082930 | ENST00000223029 | deleterious(0.01) | benign(0.023) | Yes | AIMP2_LysRS_bd | 7:6049073 | 7:6009442 | - | 4.21 |
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29 | 29 | ASN | SER | 6ild_C | PDB | Neutral | none predicted | - | - | 4.122e-06 | rs1289756357 | ENST00000223029 | deleterious(0.03) | probably_damaging(0.912) | Yes | AIMP2_LysRS_bd | 7:6049080 | 7:6009449 | - | 2.7 |
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29 | 29 | ASN | ILE | 6ild_C | PDB | Neutral | none predicted | - | - | 4.122e-06 | rs1289756357 | ENST00000223029 | deleterious(0.03) | probably_damaging(0.912) | Yes | AIMP2_LysRS_bd | 7:6049080 | 7:6009449 | - | 2.7 |
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29 | 29 | ASN | HIS | 6ild_C | PDB | Neutral | none predicted | - | - | - | rs1381117753 | ENST00000223029 | deleterious(0.05) | possibly_damaging(0.621) | Yes | AIMP2_LysRS_bd | 7:6049079 | 7:6009448 | - | 5.13 |
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29 | 29 | ASN | ASP | 6ild_C | PDB | Neutral | none predicted | - | - | - | rs1381117753 | ENST00000223029 | deleterious(0.05) | possibly_damaging(0.621) | Yes | AIMP2_LysRS_bd | 7:6049079 | 7:6009448 | - | 5.13 |
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29 | 29 | ASN | LYS | 6ild_C | PDB | Neutral | none predicted | - | - | 8.253e-06 | rs780037791 | ENST00000223029 | deleterious(0.02) | possibly_damaging(0.683) | Yes | AIMP2_LysRS_bd | 7:6049081 | 7:6009450 | - | 1.23 |
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30 | 30 | VAL | ALA | 6ild_C | PDB | Neutral | none predicted | - | - | - | rs1489732343 | ENST00000223029 | tolerated(0.05) | benign(0.009) | Yes | AIMP2_LysRS_bd | 7:6049083 | 7:6009452 | - | 5.13 |
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30 | 30 | VAL | LEU | 6ild_C | PDB | Neutral | none predicted | - | - | 4.128e-06 | rs748215903 | ENST00000223029 | tolerated(0.25) | benign(0.028) | Yes | AIMP2_LysRS_bd | 7:6049082 | 7:6009451 | - | 2.02 |
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31 | 31 | HIS | GLN | 6ild_C | PDB | Neutral | none predicted | - | - | 4.56e-05 | rs200865484 | ENST00000223029 | tolerated(0.08) | benign(0.096) | Yes | AIMP2_LysRS_bd | 7:6049087 | 7:6009456 | - | 3.34 |
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31 | 31 | HIS | ASN | 6ild_C | PDB | Neutral | none predicted | - | - | 1.24e-05 | rs772254141 | ENST00000223029 | tolerated(0.15) | possibly_damaging(0.466) | Yes | AIMP2_LysRS_bd | 7:6049085 | 7:6009454 | - | 5.13 |
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31 | 31 | HIS | TYR | 6ild_C | PDB | Neutral | none predicted | - | - | 1.24e-05 | rs772254141 | ENST00000223029 | tolerated(0.15) | possibly_damaging(0.466) | Yes | AIMP2_LysRS_bd | 7:6049085 | 7:6009454 | - | 5.13 |
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32 | 32 | GLY | SER | 4ycu_C | PDB | Neutral | none predicted | - | - | 8.291e-06 | rs200362634 | ENST00000223029 | deleterious(0.03) | benign(0.005) | Yes | AIMP2_LysRS_bd | 7:6049088 | 7:6009457 | - | -1.13 |
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32 | 32 | GLY | CYS | 4ycu_C | PDB | Neutral | none predicted | - | - | 8.291e-06 | rs200362634 | ENST00000223029 | deleterious(0.03) | benign(0.005) | Yes | AIMP2_LysRS_bd | 7:6049088 | 7:6009457 | - | -1.13 |
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105 | 105 | ALA | GLU | 5a5h_D | PDB | Neutral | none predicted | - | - | 1.218e-05 | rs774134623 | ENST00000223029 | tolerated(0.19) | benign(0.006) | - | - | 7:6054955 | 7:6015324 | 15 | 0.02 |
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105 | 105 | ALA | VAL | 5a5h_D | PDB | Neutral | none predicted | - | - | 1.218e-05 | rs774134623 | ENST00000223029 | tolerated(0.19) | benign(0.006) | - | - | 7:6054955 | 7:6015324 | 15 | 0.02 |
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107 | 107 | ASP | TYR | 5a5h_D | PDB | Neutral | none predicted | - | - | 2.436e-05 | rs754061405 | ENST00000223029 | deleterious(0.01) | probably_damaging(0.955) | Yes | - | 7:6054960 | 7:6015329 | 53 | 4.24 |
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108 | 108 | LEU | PHE | 5a5h_D | PDB | Neutral | none predicted | - | - | - | rs1447045312 | ENST00000223029 | deleterious(0) | probably_damaging(0.965) | - | - | 7:6054965 | 7:6015334 | 53 | 0.49 |
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109 | 109 | ASN | LYS | 5a5h_D | PDB | Neutral | none predicted | - | - | - | rs1211111262 | ENST00000223029 | deleterious(0.01) | benign(0.152) | - | - | 7:6054968 | 7:6015337 | 53 | -1.82 |
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109 | 109 | ASN | SER | 5a5h_D | PDB | Neutral | none predicted | - | - | - | rs990903521 | ENST00000223029 | tolerated(0.14) | benign(0.03) | - | - | 7:6054967 | 7:6015336 | 53 | 5.13 |
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111 | 111 | VAL | MET | 5a5h_D | PDB | Neutral | none predicted | - | - | 5.279e-05 | rs375295993 | ENST00000223029 | tolerated(0.41) | benign(0.03) | Yes | - | 7:6054972 | 7:6015341 | 21 | 1.92 |
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113 | 113 | GLY | ARG | 5a5h_D | PDB | Damaging | Disallowed phi/psi | - | - | 4.061e-06 | rs373626338 | ENST00000223029 | deleterious(0) | probably_damaging(0.996) | Yes | - | 7:6054978 | 7:6015347 | 5 | 5.13 |
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114 | 114 | LYS | GLN | 5a5h_D | PDB | Neutral | none predicted | - | - | 4.061e-06 | rs758656381 | ENST00000223029 | tolerated(0.19) | benign(0.051) | Yes | - | 7:6054981 | 7:6015350 | 5 | 3.96 |
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115 | 115 | ASP | ASN | 5a5h_D | PDB | Neutral | none predicted | - | - | 4.094e-06 | rs768501526 | ENST00000223029 | deleterious(0.05) | probably_damaging(0.959) | Yes | - | 7:6057445 | 7:6017814 | 5 | 5.05 |
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115 | 115 | ASP | HIS | 5a5h_D | PDB | Neutral | none predicted | - | - | 4.094e-06 | rs768501526 | ENST00000223029 | deleterious(0.05) | probably_damaging(0.959) | Yes | - | 7:6057445 | 7:6017814 | 5 | 5.05 |
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116 | 116 | TYR | SER | 5a5h_D | PDB | Neutral | none predicted | - | - | 4.089e-06 | rs1294023165 | ENST00000223029 | tolerated(0.36) | possibly_damaging(0.495) | Yes | - | 7:6057449 | 7:6017818 | 1 | 5.93 |
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116 | 116 | TYR | HIS | 5a5h_D | PDB | Neutral | none predicted | - | - | 1.226e-05 | rs778512251 | ENST00000223029 | tolerated(0.46) | benign(0.022) | Yes | - | 7:6057448 | 7:6017817 | 0 | 3.51 |
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117 | 117 | GLY | ARG | 5a5h_F | PDB | Neutral | none predicted | - | - | 2.863e-05 | rs375102151 | ENST00000223029 | deleterious(0.05) | probably_damaging(0.99) | Yes | - | 7:6057451 | 7:6017820 | 10 | 5.93 |
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118 | 118 | ALA | VAL | 5a5h_F | PDB | Neutral | none predicted | - | - | 4.084e-06 | rs773098686 | ENST00000223029 | tolerated(0.21) | probably_damaging(0.983) | Yes | Thioredoxin_16 | 7:6057455 | 7:6017824 | 1 | 5.05 |
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119 | 119 | LEU | VAL | 5a5h_F | PDB | Neutral | none predicted | - | - | 1.223e-05 | rs769710704 | ENST00000223029 | tolerated(0.11) | possibly_damaging(0.771) | Yes | Thioredoxin_16 | 7:6057457 | 7:6017826 | 5 | 3.91 |
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120 | 120 | LYS | GLN | 5a5h_H | PDB | Neutral | none predicted | - | - | 7.334e-05 | rs775788927 | ENST00000223029 | tolerated(0.22) | benign(0.203) | - | Thioredoxin_16 | 7:6057460 | 7:6017829 | 10 | 4.75 |
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121 | 121 | ASP | GLY | 5a5h_H | PDB | Damaging | Disallowed phi/psi | - | - | 4.073e-06 | rs200028351 | ENST00000223029 | deleterious(0) | probably_damaging(1) | Yes | Thioredoxin_16 | 7:6057464 | 7:6017833 | 1 | 5.93 |
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122 | 122 | ILE | LEU | 5a5h_H | PDB | Neutral | none predicted | - | - | 8.142e-06 | rs763030358 | ENST00000223029 | tolerated(0.23) | benign(0.087) | - | Thioredoxin_16 | 7:6057466 | 7:6017835 | 0 | 5.93 |
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122 | 122 | ILE | VAL | 5a5h_H | PDB | Neutral | none predicted | - | - | 8.142e-06 | rs763030358 | ENST00000223029 | tolerated(0.23) | benign(0.087) | - | Thioredoxin_16 | 7:6057466 | 7:6017835 | 0 | 5.93 |
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122 | 122 | ILE | SER | 5a5h_H | PDB | Neutral | none predicted | - | - | - | rs764368950 | ENST00000223029 | deleterious(0) | probably_damaging(0.945) | - | Thioredoxin_16 | 7:6057467 | 7:6017836 | 9 | 5.93 |
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122 | 122 | ILE | THR | 5a5h_H | PDB | Neutral | none predicted | - | - | - | rs764368950 | ENST00000223029 | deleterious(0) | probably_damaging(0.945) | - | Thioredoxin_16 | 7:6057467 | 7:6017836 | 9 | 5.93 |
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123 | 123 | VAL | MET | 5a5h_H | PDB | Neutral | none predicted | - | - | - | - | - | deleterious(0) | probably_damaging(0.999) | Yes | Thioredoxin_16 | - | - | - | - |
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124 | 124 | ILE | LEU | 5a5h_H | PDB | Neutral | none predicted | - | - | - | rs1304859703 | ENST00000223029 | deleterious(0.04) | possibly_damaging(0.799) | - | Thioredoxin_16 | 7:6057472 | 7:6017841 | 9 | 5.93 |
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124 | 124 | ILE | MET | 5a5h_H | PDB | Neutral | none predicted | - | - | 4.069e-06 | rs762237456 | ENST00000223029 | deleterious(0) | probably_damaging(0.987) | - | Thioredoxin_16 | 7:6057474 | 7:6017843 | 1 | 5.93 |
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125 | 125 | ASN | SER | 5a5h_H | PDB | Neutral | none predicted | - | - | 4.068e-06 | rs750912720 | ENST00000223029 | tolerated(0.15) | probably_damaging(0.979) | - | Thioredoxin_16 | 7:6057476 | 7:6017845 | 1 | 5.93 |
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126 | 126 | ALA | THR | 5a5h_H | PDB | Neutral | none predicted | - | - | 0.0001099 | rs550952758 | ENST00000223029 | tolerated(0.07) | possibly_damaging(0.854) | - | Thioredoxin_16 | 7:6057478 | 7:6017847 | 21 | 5.93 |
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127 | 127 | ASN | HIS | 5a5h_H | PDB | Neutral | none predicted | - | - | 4.067e-06 | rs373372974 | ENST00000223029 | deleterious(0) | probably_damaging(0.994) | - | Thioredoxin_16 | 7:6057481 | 7:6017850 | 21 | 5.93 |
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128 | 128 | PRO | LEU | 5a5h_H | PDB | Neutral | none predicted | - | - | 8.135e-06 | rs747974072 | ENST00000223029 | deleterious(0) | probably_damaging(1) | - | Thioredoxin_16 | 7:6057485 | 7:6017854 | 0 | 5.93 |
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128 | 128 | PRO | ALA | 5a5h_H | PDB | Neutral | none predicted | - | - | 4.067e-06 | rs778622819 | ENST00000223029 | deleterious(0.01) | probably_damaging(1) | - | Thioredoxin_16 | 7:6057484 | 7:6017853 | 0 | 5.93 |
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128 | 128 | PRO | SER | 5a5h_H | PDB | Neutral | none predicted | - | - | 4.067e-06 | rs778622819 | ENST00000223029 | deleterious(0.01) | probably_damaging(1) | - | Thioredoxin_16 | 7:6057484 | 7:6017853 | 0 | 5.93 |
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129 | 129 | ALA | VAL | 5a5h_H | PDB | Neutral | none predicted | - | - | 4.066e-06 | rs17855441 | ENST00000223029 | tolerated(0.08) | benign(0.037) | - | Thioredoxin_16 | 7:6057488 | 7:6017857 | 5 | 5.93 |
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130 | 130 | SER | PHE | 5a5h_H | PDB | Neutral | none predicted | - | - | 4.065e-06 | rs777707483 | ENST00000223029 | tolerated(0.61) | benign(0.154) | - | Thioredoxin_16 | 7:6057491 | 7:6017860 | 33 | 3.71 |
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131 | 131 | PRO | ALA | 5a5h_H | PDB | Neutral | none predicted | - | - | - | rs1296381315 | ENST00000223029 | deleterious(0.04) | benign(0.345) | - | Thioredoxin_16 | 7:6057493 | 7:6017862 | 33 | 5.82 |
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131 | 131 | PRO | LEU | 5a5h_H | PDB | Neutral | none predicted | - | - | - | - | - | deleterious(0) | probably_damaging(0.938) | - | Thioredoxin_16 | - | - | - | - |
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133 | 133 | LEU | PHE | 5a5h_H | PDB | Damaging | Buried H-bond breakage | - | - | 4.064e-06 | rs1231114699 | ENST00000223029 | tolerated(0.06) | possibly_damaging(0.784) | - | Thioredoxin_16 | 7:6057499 | 7:6017868 | 0 | 5.82 |
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133 | 133 | LEU | PRO | 5a5h_H | PDB | Damaging | Buried Pro introduced; Buried H-bond breakage; Buried / exposed switch | - | - | 8.128e-06 | rs746905456 | ENST00000223029 | deleterious(0) | probably_damaging(0.951) | - | Thioredoxin_16 | 7:6057500 | 7:6017869 | 5 | 5.82 |
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134 | 134 | SER | PHE | 5a5h_H | PDB | Damaging | Buried H-bond breakage | - | - | 0.0001178 | rs769933568 | ENST00000223029 | deleterious(0) | probably_damaging(0.991) | - | Thioredoxin_16 | 7:6057503 | 7:6017872 | 49 | 4.93 |
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136 | 136 | LEU | VAL | 5a5h_H | PDB | Damaging | Cavity altered | - | - | - | rs1431221728 | ENST00000223029 | deleterious(0.02) | benign(0.247) | - | Thioredoxin_16 | 7:6057508 | 7:6017877 | 49 | 3.77 |
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137 | 137 | VAL | LEU | 5a5h_H | PDB | Neutral | none predicted | - | - | - | - | - | deleterious(0.04) | possibly_damaging(0.496) | - | Thioredoxin_16 | - | - | - | - |
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138 | 138 | LEU | PRO | 5a5h_H | PDB | Damaging | Buried Pro introduced | - | - | 4.063e-06 | rs765096358 | ENST00000223029 | deleterious(0) | probably_damaging(0.988) | - | Thioredoxin_16 | 7:6057515 | 7:6017884 | 65 | 5.82 |
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139 | 139 | HIS | GLN | 5a5h_H | PDB | Damaging | Buried charge replaced | - | - | - | rs1424120170 | ENST00000223029 | deleterious(0.01) | probably_damaging(0.981) | - | Thioredoxin_16 | 7:6057519 | 7:6017888 | 65 | 3.01 |
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140 | 140 | ARG | SER | 5a5h_H | PDB | Neutral | none predicted | - | - | - | rs774693908 | ENST00000223029 | tolerated(0.93) | benign(0.001) | - | Thioredoxin_16 | 7:6057522 | 7:6017891 | 65 | 2.84 |
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140 | 140 | ARG | LYS | 5a5h_H | PDB | Neutral | none predicted | - | - | - | rs946176280 | ENST00000223029 | tolerated(0.82) | benign(0.021) | - | Thioredoxin_16 | 7:6057521 | 7:6017890 | 65 | 0.46 |
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141 | 141 | LEU | ARG | 5a5h_H | PDB | Neutral | none predicted | - | - | - | rs1049065707 | ENST00000223029 | deleterious(0) | probably_damaging(0.926) | - | Thioredoxin_16 | 7:6057524 | 7:6017893 | 65 | 5.82 |
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142 | 142 | LEU | VAL | 5a5h_H | PDB | Neutral | none predicted | - | - | - | rs1383497501 | ENST00000223029 | deleterious(0) | probably_damaging(0.998) | - | Thioredoxin_16 | 7:6057526 | 7:6017895 | 65 | 5.82 |
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143 | 143 | CYS | SER | 5a5h_H | PDB | Neutral | none predicted | - | - | 2.438e-05 | rs767955463 | ENST00000223029 | tolerated(0.35) | probably_damaging(0.934) | - | Thioredoxin_16 | 7:6057530 | 7:6017899 | 0 | 5.82 |
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143 | 143 | CYS | TYR | 5a5h_H | PDB | Neutral | none predicted | - | - | 2.438e-05 | rs767955463 | ENST00000223029 | tolerated(0.35) | probably_damaging(0.934) | - | Thioredoxin_16 | 7:6057530 | 7:6017899 | 0 | 5.82 |
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143 | 143 | CYS | TRP | 5a5h_H | PDB | Neutral | none predicted | - | - | 1.219e-05 | rs554964581 | ENST00000223029 | deleterious(0.02) | probably_damaging(0.993) | - | Thioredoxin_16 | 7:6057531 | 7:6017900 | 15 | 0.83 |
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145 | 145 | HIS | ARG | 5a5h_H | PDB | Neutral | none predicted | - | - | 4.062e-06 | rs1167436165 | ENST00000223029 | tolerated(1) | benign(0) | - | Thioredoxin_16 | 7:6057536 | 7:6017905 | 28 | 2.1 |
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147 | 147 | ARG | SER | 5a5h_H | PDB | Neutral | none predicted | - | - | 8.125e-06 | rs761028688 | ENST00000223029 | tolerated(0.05) | benign(0.202) | - | Thioredoxin_16 | 7:6057543 | 7:6017912 | 0 | 4.94 |
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148 | 148 | VAL | PHE | 5a5h_H | PDB | Neutral | none predicted | - | - | - | rs549852720 | ENST00000223029 | deleterious(0) | possibly_damaging(0.85) | - | Thioredoxin_16 | 7:6057544 | 7:6017913 | 44 | 4.83 |
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148 | 148 | VAL | ILE | 5a5h_H | PDB | Neutral | none predicted | - | - | - | rs549852720 | ENST00000223029 | deleterious(0) | possibly_damaging(0.85) | - | Thioredoxin_16 | 7:6057544 | 7:6017913 | 44 | 4.83 |
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151 | 151 | THR | MET | 5a5h_H | PDB | Neutral | none predicted | - | - | 1.625e-05 | rs765640941 | ENST00000223029 | deleterious(0.01) | possibly_damaging(0.795) | Yes | Thioredoxin_16 | 7:6057554 | 7:6017923 | 15 | 5.82 |
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153 | 153 | HIS | TYR | 5a5h_H | PDB | Neutral | none predicted | - | - | 8.124e-06 | rs764843355 | ENST00000223029 | tolerated(0.05) | probably_damaging(0.999) | Yes | Thioredoxin_16 | 7:6057559 | 7:6017928 | 10 | 5.82 |
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154 | 154 | THR | MET | 5a5h_H | PDB | Neutral | none predicted | - | - | 0.0001787 | rs75895975 | ENST00000223029 | tolerated(0.14) | benign(0.237) | Yes | Thioredoxin_16 | 7:6057563 | 7:6017932 | 5 | 2.65 |
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155 | 155 | HIS | PRO | 5a5h_H | PDB | Neutral | none predicted | - | - | 4.062e-06 | rs374990034 | ENST00000223029 | deleterious(0) | probably_damaging(0.999) | Yes | Thioredoxin_16 | 7:6057566 | 7:6017935 | 5 | 5.82 |
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156 | 156 | SER | PHE | 5a5h_H | PDB | Neutral | none predicted | - | - | 4.062e-06 | rs746796665 | ENST00000223029 | tolerated(0.05) | probably_damaging(0.999) | Yes | Thioredoxin_16 | 7:6057569 | 7:6017938 | 32 | 5.82 |
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158 | 158 | VAL | LEU | 5a5h_F | PDB | Damaging | Clash | - | - | - | rs1314840632 | ENST00000223029 | deleterious(0.01) | benign(0.033) | - | Thioredoxin_16 | 7:6057574 | 7:6017943 | 32 | 4.02 |
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159 | 159 | LYS | ASN | 5a5h_F | PDB | Neutral | none predicted | - | - | 8.124e-06 | rs931014900 | ENST00000223029 | tolerated(0.33) | benign(0.101) | - | Thioredoxin_16 | 7:6057579 | 7:6017948 | 10 | 0.8 |
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161 | 161 | VAL | GLU | 5a5h_H | PDB | Neutral | none predicted | - | - | 4.062e-06 | rs774747119 | ENST00000223029 | deleterious(0.05) | probably_damaging(0.984) | - | Thioredoxin_16 | 7:6057584 | 7:6017953 | 15 | 5.82 |
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161 | 161 | VAL | MET | 5a5h_H | PDB | Neutral | none predicted | - | - | 1.625e-05 | rs768732685 | ENST00000223029 | deleterious(0) | probably_damaging(0.977) | - | Thioredoxin_16 | 7:6057583 | 7:6017952 | 0 | 5.82 |
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163 | 163 | GLU | LYS | 5a5h_H | PDB | Neutral | none predicted | - | - | 1.219e-05 | rs1189753900 | ENST00000223029 | tolerated(0.51) | benign(0.318) | - | Thioredoxin_16 | 7:6057589 | 7:6017958 | 21 | 3.95 |
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165 | 165 | LEU | PHE | 5a5h_H | PDB | Neutral | none predicted | - | - | 8.123e-06 | rs1013331223 | ENST00000223029 | deleterious(0) | probably_damaging(0.999) | - | Thioredoxin_16 | 7:6057595 | 7:6017964 | 5 | 5.82 |
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165 | 165 | LEU | VAL | 5a5h_H | PDB | Neutral | none predicted | - | - | 8.123e-06 | rs1013331223 | ENST00000223029 | deleterious(0) | probably_damaging(0.999) | - | Thioredoxin_16 | 7:6057595 | 7:6017964 | 5 | 5.82 |
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166 | 166 | LEU | HIS | 5a5h_H | PDB | Neutral | none predicted | - | - | 4.062e-06 | rs773768066 | ENST00000223029 | tolerated(0.06) | possibly_damaging(0.837) | Yes | Thioredoxin_16 | 7:6057599 | 7:6017968 | 5 | 5.82 |
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167 | 167 | LYS | ARG | 5a5h_H | PDB | Neutral | none predicted | - | - | 8.123e-06 | rs771380350 | ENST00000223029 | tolerated(0.43) | benign(0.006) | - | Thioredoxin_16 | 7:6057602 | 7:6017971 | 38 | -0.59 |
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168 | 168 | CYS | TRP | 5a5h_H | PDB | Neutral | none predicted | - | - | 1.219e-05 | rs777169814 | ENST00000223029 | deleterious(0) | probably_damaging(0.992) | - | Thioredoxin_16 | 7:6057606 | 7:6017975 | 38 | 3.8 |
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170 | 170 | GLY | VAL | 5a5h_F | PDB | Neutral | none predicted | - | - | 1.625e-05 | rs141537839 | ENST00000223029 | deleterious(0) | probably_damaging(0.999) | - | Thioredoxin_16 | 7:6057611 | 7:6017980 | 33 | 5.82 |
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173 | 173 | ASN | SER | 5a5h_D | PDB | Neutral | none predicted | - | - | 4.062e-06 | rs1335537270 | ENST00000223029 | tolerated(0.97) | benign(0) | - | Thioredoxin_16 | 7:6057620 | 7:6017989 | 1 | 3.89 |
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173 | 173 | ASN | LYS | 5a5h_D | PDB | Neutral | none predicted | - | - | 0.0001074 | rs923027283 | ENST00000223029 | tolerated(0.87) | benign(0.013) | - | Thioredoxin_16 | 7:6057621 | 7:6017990 | 0 | -4.98 |
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174 | 174 | LYS | GLU | 5a5h_D | PDB | Neutral | none predicted | - | - | 1.219e-05 | rs1441116607 | ENST00000223029 | tolerated(0.87) | benign(0.054) | - | Thioredoxin_16 | 7:6057622 | 7:6017991 | 5 | 2.04 |
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175 | 175 | LYS | GLU | 5a5h_D | PDB | Neutral | none predicted | - | - | 8.125e-06 | rs542587504 | ENST00000223029 | tolerated(0.88) | benign(0.033) | - | Thioredoxin_16 | 7:6057625 | 7:6017994 | 5 | 2.04 |
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175 | 175 | LYS | GLN | 5a5h_D | PDB | Neutral | none predicted | - | - | 8.125e-06 | rs542587504 | ENST00000223029 | tolerated(0.88) | benign(0.033) | - | Thioredoxin_16 | 7:6057625 | 7:6017994 | 5 | 2.04 |
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175 | 175 | LYS | ASN | 5a5h_D | PDB | Neutral | none predicted | - | - | 4.078e-06 | rs762654416 | ENST00000223029 | tolerated(0.5) | benign(0.003) | - | Thioredoxin_16 | 7:6057627 | 7:6017996 | 0 | -9.86 |
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176 | 176 | GLN | HIS | 5a5h_D | PDB | Neutral | none predicted | - | - | 7.349e-05 | rs751354172 | ENST00000223029 | tolerated(0.09) | benign(0.283) | - | Thioredoxin_16 | 7:6057630 | 7:6017999 | 21 | 3.99 |
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176 | 176 | GLN | LYS | 5a5h_D | PDB | Neutral | none predicted | - | - | 1.222e-05 | rs560844337 | ENST00000223029 | tolerated(0.5) | benign(0.005) | - | Thioredoxin_16 | 7:6057628 | 7:6017997 | 21 | 3.86 |
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177 | 177 | PRO | SER | 5a5h_D | PDB | Neutral | none predicted | - | - | - | rs1205639853 | ENST00000223029 | tolerated(1) | benign(0.001) | Yes | Thioredoxin_16 | 7:6057631 | 7:6018000 | 21 | -1.67 |
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178 | 178 | ARG | HIS | 5a5h_F | PDB | Neutral | none predicted | - | - | 0.0 | rs766723249 | ENST00000223029 | deleterious(0) | probably_damaging(0.999) | Yes | Thioredoxin_16 | 7:6057635 | 7:6018004 | 0 | 5.82 |
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178 | 178 | ARG | GLY | 5a5h_F | PDB | Neutral | none predicted | - | - | 4.063e-06 | rs200566166 | ENST00000223029 | deleterious(0) | probably_damaging(1) | Yes | Thioredoxin_16 | 7:6057634 | 7:6018003 | 1 | 5.82 |
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178 | 178 | ARG | CYS | 5a5h_F | PDB | Neutral | none predicted | - | - | 4.063e-06 | rs200566166 | ENST00000223029 | deleterious(0) | probably_damaging(1) | Yes | Thioredoxin_16 | 7:6057634 | 7:6018003 | 1 | 5.82 |
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179 | 179 | GLN | GLU | 5a5h_H | PDB | Neutral | none predicted | - | - | 4.063e-06 | rs750336358 | ENST00000223029 | tolerated(0.14) | benign(0.021) | Yes | Thioredoxin_16 | 7:6057637 | 7:6018006 | 21 | 5.82 |
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179 | 179 | GLN | ARG | 5a5h_H | PDB | Neutral | none predicted | - | - | - | - | - | tolerated(0.42) | benign(0.034) | Yes | Thioredoxin_16 | - | - | - | - |
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181 | 181 | TYR | HIS | 5a5h_H | PDB | Neutral | none predicted | - | - | 4.064e-06 | rs1234766123 | ENST00000223029 | tolerated(0.32) | benign(0.015) | - | Thioredoxin_16 | 7:6057643 | 7:6018012 | 10 | 4.66 |
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181 | 181 | TYR | PHE | 5a5h_H | PDB | Neutral | none predicted | - | - | - | - | - | tolerated(0.43) | benign(0.006) | - | Thioredoxin_16 | - | - | - | - |
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182 | 182 | GLN | PRO | 5a5h_H | PDB | Damaging | Disallowed phi/psi | - | - | 0.0001341 | rs755018110 | ENST00000223029 | deleterious(0) | probably_damaging(0.998) | - | Thioredoxin_16 | 7:6057647 | 7:6018016 | 0 | 5.82 |
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182 | 182 | GLN | LEU | 5a5h_H | PDB | Neutral | none predicted | - | - | 0.0001341 | rs755018110 | ENST00000223029 | deleterious(0) | probably_damaging(0.998) | - | Thioredoxin_16 | 7:6057647 | 7:6018016 | 0 | 5.82 |
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182 | 182 | GLN | HIS | 5a5h_H | PDB | Neutral | none predicted | - | - | 4.065e-06 | rs1393819667 | ENST00000223029 | deleterious(0) | probably_damaging(0.999) | - | Thioredoxin_16 | 7:6057648 | 7:6018017 | 58 | 4.01 |
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184 | 184 | GLY | GLU | 5a5h_H | PDB | Damaging | Buried Gly replaced; Buried / exposed switch | - | - | - | rs779079471 | ENST00000223029 | deleterious(0) | probably_damaging(0.993) | - | Thioredoxin_16 | 7:6057653 | 7:6018022 | 58 | 4.91 |
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187 | 187 | LEU | ILE | 5a5h_H | PDB | Neutral | none predicted | - | - | 4.076e-06 | rs1456013597 | ENST00000223029 | tolerated(0.06) | probably_damaging(0.998) | - | Thioredoxin_16 | 7:6057661 | 7:6018030 | 10 | -0.36 |
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188 | 188 | ILE | ASN | 5a5h_H | PDB | Neutral | none predicted | - | - | 4.085e-06 | rs1173669660 | ENST00000223029 | deleterious(0) | probably_damaging(0.999) | Yes | Thioredoxin_16 | 7:6057665 | 7:6018034 | 21 | 5.67 |
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190 | 190 | LYS | THR | 5a5h_H | PDB | Neutral | none predicted | - | - | 4.102e-06 | rs1396282189 | ENST00000223029 | deleterious(0) | probably_damaging(0.999) | Yes | Thioredoxin_16 | 7:6057671 | 7:6018040 | 4 | 5.67 |
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190 | 190 | LYS | ASN | 5a5h_H | PDB | Neutral | none predicted | - | - | - | - | - | deleterious(0) | probably_damaging(0.999) | Yes | Thioredoxin_16 | - | - | - | - |
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191 | 191 | ASN | SER | 5a5h_H | PDB | Neutral | none predicted | - | - | 4.111e-06 | rs748222802 | ENST00000223029 | tolerated(0.14) | benign(0.23) | - | Thioredoxin_16 | 7:6057674 | 7:6018043 | 19 | 5.67 |
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193 | 193 | PRO | ARG | 5a5h_H | PDB | Neutral | none predicted | - | - | 5.242e-05 | rs776366708 | ENST00000223029 | tolerated(0.08) | possibly_damaging(0.756) | Yes | Thioredoxin_16 | 7:6062937 | 7:6023306 | 19 | 4.5 |
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193 | 193 | PRO | LEU | 5a5h_H | PDB | Neutral | none predicted | - | - | 5.242e-05 | rs776366708 | ENST00000223029 | tolerated(0.08) | possibly_damaging(0.756) | Yes | Thioredoxin_16 | 7:6062937 | 7:6023306 | 19 | 4.5 |
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195 | 195 | THR | MET | 5a5h_H | PDB | Neutral | none predicted | - | - | 1.288e-05 | rs1163788754 | ENST00000223029 | tolerated(0.18) | benign(0.383) | - | Thioredoxin_16 | 7:6062943 | 7:6023312 | 1 | 5.37 |
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195 | 195 | THR | ARG | 5a5h_H | PDB | Damaging | Clash | - | - | - | - | - | tolerated(0.1) | possibly_damaging(0.476) | - | Thioredoxin_16 | - | - | - | - |
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196 | 196 | GLN | GLU | 5a5h_H | PDB | Neutral | none predicted | - | - | 1.279e-05 | rs142387037 | ENST00000223029 | tolerated(0.33) | possibly_damaging(0.514) | - | Thioredoxin_16 | 7:6062945 | 7:6023314 | 81 | 4.49 |
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196 | 196 | GLN | HIS | 5a5h_H | PDB | Neutral | none predicted | - | - | - | - | - | deleterious(0) | probably_damaging(0.992) | - | Thioredoxin_16 | - | - | - | - |
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200 | 200 | SER | ARG | 5a5h_H | PDB | Neutral | none predicted | - | - | - | rs760513787 | ENST00000223029 | deleterious(0.04) | benign(0.048) | Yes | Thioredoxin_16 | 7:6062957 | 7:6023326 | 81 | 4.22 |
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203 | 203 | THR | MET | 5a5h_H | PDB | Neutral | none predicted | - | - | 4.58e-05 | rs766467029 | ENST00000223029 | tolerated(0.14) | possibly_damaging(0.809) | Yes | Thioredoxin_16 | 7:6062967 | 7:6023336 | 4 | 1.19 |
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204 | 204 | MET | THR | 5a5h_H | PDB | Neutral | none predicted | - | - | 2.068e-05 | rs753779282 | ENST00000223029 | tolerated(0.1) | possibly_damaging(0.892) | Yes | Thioredoxin_16 | 7:6062970 | 7:6023339 | 9 | 5.37 |
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206 | 206 | PRO | THR | 5a5h_H | PDB | Neutral | none predicted | - | - | - | - | - | deleterious(0) | probably_damaging(1) | Yes | Thioredoxin_16 | - | - | - | - |
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206 | 206 | PRO | SER | 5a5h_H | PDB | Neutral | none predicted | - | - | - | - | - | deleterious(0) | probably_damaging(1) | Yes | Thioredoxin_16 | - | - | - | - |
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208 | 208 | GLU | LYS | 5a5h_H | PDB | Neutral | none predicted | - | - | 7.394e-05 | rs11544566 | ENST00000223029 | deleterious(0.05) | possibly_damaging(0.862) | Yes | Thioredoxin_16 | 7:6062981 | 7:6023350 | 20 | 5.37 |
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209 | 209 | GLY | ASP | 5a5h_H | PDB | Damaging | Disallowed phi/psi; Gly in a bend | - | - | - | rs926430593 | ENST00000223029 | deleterious(0) | probably_damaging(1) | Yes | - | 7:6062985 | 7:6023354 | 20 | 5.37 |
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210 | 210 | GLU | LYS | 5a5h_H | PDB | Damaging | Buried charge switch; Buried H-bond breakage; Buried salt bridge breakage | - | - | 2.451e-05 | rs756425703 | ENST00000223029 | deleterious(0) | probably_damaging(0.999) | - | - | 7:6062987 | 7:6023356 | 44 | 5.37 |
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211 | 211 | GLY | TRP | 5a5h_H | PDB | Damaging | Buried Gly replaced; Buried / exposed switch | - | - | - | rs1462376384 | ENST00000223029 | deleterious(0.01) | probably_damaging(0.959) | - | - | 7:6062990 | 7:6023359 | 44 | 5.37 |
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213 | 213 | ILE | THR | 5a5h_H | PDB | Neutral | none predicted | - | - | 2.036e-05 | rs749728733 | ENST00000223029 | deleterious(0) | probably_damaging(0.948) | - | - | 7:6062997 | 7:6023366 | 15 | 5.37 |
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214 | 214 | ALA | THR | 5a5h_H | PDB | Damaging | Cavity altered | - | - | - | rs1161751628 | ENST00000223029 | deleterious(0.01) | probably_damaging(0.945) | - | - | 7:6062999 | 7:6023368 | 15 | 5.37 |
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215 | 215 | ARG | CYS | 5a5h_H | PDB | Neutral | none predicted | - | - | 1.629e-05 | rs377482895 | ENST00000223029 | deleterious(0) | probably_damaging(1) | Yes | - | 7:6063002 | 7:6023371 | 0 | 4.48 |
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215 | 215 | ARG | HIS | 5a5h_H | PDB | Neutral | none predicted | - | - | 4.072e-05 | rs150887968 | ENST00000223029 | deleterious(0) | probably_damaging(0.999) | Yes | - | 7:6063003 | 7:6023372 | 33 | 5.37 |
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219 | 219 | SER | PRO | 5a5h_H | PDB | Damaging | Secondary structure altered | - | - | 1.223e-05 | rs150874145 | ENST00000223029 | tolerated(0.1) | probably_damaging(0.935) | Yes | - | 7:6063014 | 7:6023383 | 0 | 5.27 |
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221 | 221 | PHE | SER | 5a5h_H | PDB | Damaging | Cavity altered | - | - | 4.078e-06 | rs1253653601 | ENST00000223029 | deleterious(0) | possibly_damaging(0.544) | - | - | 7:6063021 | 7:6023390 | 0 | 5.37 |
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221 | 221 | PHE | LEU | 5a5h_H | PDB | Neutral | none predicted | - | - | 8.156e-06 | rs370941772 | ENST00000223029 | tolerated(1) | benign(0.001) | - | - | 7:6063022 | 7:6023391 | 15 | 0.18 |
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223 | 223 | GLN | ARG | 5a5h_H | PDB | Neutral | none predicted | - | - | 8.158e-06 | rs760568809 | ENST00000223029 | tolerated(0.52) | benign(0.003) | - | - | 7:6063027 | 7:6023396 | 15 | 4.22 |
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225 | 225 | HIS | ARG | 5a5h_H | PDB | Neutral | none predicted | - | - | - | rs1209085120 | ENST00000223029 | tolerated(0.26) | benign(0.003) | - | - | 7:6063033 | 7:6023402 | 5 | 5.37 |
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225 | 225 | HIS | TYR | 5a5h_H | PDB | Neutral | none predicted | - | - | 4.081e-06 | rs369386259 | ENST00000223029 | tolerated(1) | benign(0) | - | - | 7:6063032 | 7:6023401 | 5 | 4.48 |
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225 | 225 | HIS | ASP | 5a5h_H | PDB | Neutral | none predicted | - | - | 4.081e-06 | rs369386259 | ENST00000223029 | tolerated(1) | benign(0) | - | - | 7:6063032 | 7:6023401 | 5 | 4.48 |
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225 | 225 | HIS | GLN | 5a5h_H | PDB | Neutral | none predicted | - | - | - | rs776710794 | ENST00000223029 | tolerated(0.32) | benign(0.003) | - | - | 7:6063034 | 7:6023403 | 0 | -9.86 |
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226 | 226 | ASN | ASP | 5a5h_H | PDB | Neutral | none predicted | - | - | 8.166e-06 | rs1160411494 | ENST00000223029 | tolerated(1) | benign(0.001) | - | - | 7:6063035 | 7:6023404 | 0 | -4.16 |
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226 | 226 | ASN | HIS | 5a5h_H | PDB | Neutral | none predicted | - | - | 8.166e-06 | rs1160411494 | ENST00000223029 | tolerated(1) | benign(0.001) | - | - | 7:6063035 | 7:6023404 | 0 | -4.16 |
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226 | 226 | ASN | SER | 5a5h_H | PDB | Neutral | none predicted | - | - | 0.0001388 | rs139398981 | ENST00000223029 | tolerated(0.1) | benign(0.007) | - | - | 7:6063036 | 7:6023405 | 1 | 4.46 |
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227 | 227 | ALA | VAL | 5a5h_H | PDB | Neutral | none predicted | - | - | 4.085e-06 | rs1310790068 | ENST00000223029 | tolerated(0.11) | benign(0.402) | Yes | - | 7:6063039 | 7:6023408 | 1 | 5.61 |
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227 | 227 | ALA | THR | 5a5h_H | PDB | Neutral | none predicted | - | - | 1.226e-05 | rs765070549 | ENST00000223029 | tolerated(0.06) | possibly_damaging(0.645) | Yes | - | 7:6063038 | 7:6023407 | 0 | 4.68 |
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228 | 228 | VAL | ALA | 5a5h_H | PDB | Neutral | none predicted | - | - | 2.452e-05 | rs575274304 | ENST00000223029 | tolerated(0.28) | benign(0.033) | Yes | - | 7:6063042 | 7:6023411 | 14 | 5.61 |
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228 | 228 | VAL | ILE | 5a5h_H | PDB | Neutral | none predicted | - | - | 4.086e-06 | rs751703423 | ENST00000223029 | deleterious(0.05) | benign(0.207) | Yes | - | 7:6063041 | 7:6023410 | 0 | 3.82 |
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228 | 228 | VAL | LEU | 5a5h_H | PDB | Neutral | none predicted | - | - | 4.086e-06 | rs751703423 | ENST00000223029 | deleterious(0.05) | benign(0.207) | Yes | - | 7:6063041 | 7:6023410 | 0 | 3.82 |
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229 | 229 | ASN | SER | 5a5h_H | PDB | Neutral | none predicted | - | - | - | rs1352361945 | ENST00000223029 | tolerated(0.43) | benign(0) | - | - | 7:6063045 | 7:6023414 | 14 | -6.44 |
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230 | 230 | ALA | THR | 5a5h_H | PDB | Neutral | none predicted | - | - | 1.635e-05 | rs756474990 | ENST00000223029 | tolerated(0.43) | benign(0.34) | Yes | - | 7:6063047 | 7:6023416 | 0 | -5.1 |
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230 | 230 | ALA | VAL | 5a5h_H | PDB | Neutral | none predicted | - | - | 4.089e-06 | rs370354397 | ENST00000223029 | tolerated(0.12) | benign(0.076) | Yes | - | 7:6063048 | 7:6023417 | 1 | 1.99 |
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232 | 232 | LEU | PHE | 5a5h_H | PDB | Neutral | none predicted | - | - | 4.091e-06 | rs749640780 | ENST00000223029 | tolerated(0.08) | probably_damaging(0.974) | Yes | - | 7:6063053 | 7:6023422 | 37 | 5.61 |
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232 | 232 | LEU | VAL | 5a5h_H | PDB | Neutral | none predicted | - | - | 4.091e-06 | rs749640780 | ENST00000223029 | tolerated(0.08) | probably_damaging(0.974) | Yes | - | 7:6063053 | 7:6023422 | 37 | 5.61 |
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235 | 235 | SER | GLY | 5a5h_H | PDB | Neutral | none predicted | - | - | 2.047e-05 | rs374243514 | ENST00000223029 | tolerated(0.15) | benign(0.019) | Yes | - | 7:6063062 | 7:6023431 | 4 | 1.86 |
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236 | 236 | TRP | ARG | 5a5h_H | PDB | Neutral | none predicted | - | - | 4.096e-06 | rs1041316079 | ENST00000223029 | deleterious(0) | probably_damaging(0.994) | - | - | 7:6063065 | 7:6023434 | 1 | 5.61 |
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237 | 237 | VAL | ALA | 5a5h_H | PDB | Neutral | none predicted | - | - | - | - | - | deleterious(0) | possibly_damaging(0.743) | - | - | - | - | - | - |
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239 | 239 | ILE | THR | 5a5h_H | PDB | Neutral | none predicted | - | - | 1.229e-05 | rs777600343 | ENST00000223029 | tolerated(0.48) | benign(0) | Yes | - | 7:6063075 | 7:6023444 | 1 | 0.73 |
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239 | 239 | ILE | VAL | 5a5h_H | PDB | Neutral | none predicted | - | - | 8.194e-05 | rs542661636 | ENST00000223029 | tolerated(1) | benign(0) | Yes | - | 7:6063074 | 7:6023443 | 0 | 4.47 |
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240 | 240 | ALA | VAL | 5a5h_H | PDB | Neutral | none predicted | - | - | 3.688e-05 | rs140208111 | ENST00000223029 | deleterious(0.02) | probably_damaging(1) | - | - | 7:6063078 | 7:6023447 | 44 | 5.61 |
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240 | 240 | ALA | THR | 5a5h_H | PDB | Neutral | none predicted | - | - | 4.098e-06 | rs1437317399 | ENST00000223029 | deleterious(0) | probably_damaging(1) | - | - | 7:6063077 | 7:6023446 | 0 | 4.73 |
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243 | 243 | GLN | HIS | 5a5h_H | PDB | Neutral | none predicted | - | - | 1.23e-05 | rs770859885 | ENST00000223029 | deleterious(0) | probably_damaging(0.987) | Yes | - | 7:6063088 | 7:6023457 | 37 | 4.73 |
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244 | 244 | LEU | SER | 5a5h_H | PDB | Neutral | none predicted | - | - | - | rs1418034441 | ENST00000223029 | deleterious(0) | probably_damaging(0.995) | - | GST_C | 7:6063090 | 7:6023459 | 37 | 5.61 |
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245 | 245 | LYS | GLU | 5a5h_H | PDB | Neutral | none predicted | - | - | - | rs1174414194 | ENST00000223029 | tolerated(0.95) | benign(0.007) | - | GST_C | 7:6063092 | 7:6023461 | 37 | 4.44 |
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248 | 248 | SER | CYS | 5a5h_H | PDB | Neutral | none predicted | - | - | 4.1e-06 | rs1360732124 | ENST00000223029 | deleterious(0) | probably_damaging(0.976) | - | GST_C | 7:6063101 | 7:6023470 | 1 | 4.46 |
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249 | 249 | SER | GLY | 5a5h_H | PDB | Neutral | none predicted | - | - | 4.101e-06 | rs769821226 | ENST00000223029 | deleterious(0.01) | possibly_damaging(0.591) | - | GST_C | 7:6063104 | 7:6023473 | 20 | 4.43 |
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251 | 251 | GLU | GLN | 5a5h_H | PDB | Neutral | none predicted | - | - | 4.101e-06 | rs1466315276 | ENST00000223029 | deleterious(0) | probably_damaging(0.999) | - | GST_C | 7:6063110 | 7:6023479 | 20 | 5.61 |
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253 | 253 | ALA | SER | 5a5h_H | PDB | Neutral | none predicted | - | - | 4.101e-06 | rs775245397 | ENST00000223029 | tolerated(0.07) | benign(0.245) | - | GST_C | 7:6063116 | 7:6023485 | 4 | 4.74 |
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254 | 254 | ALA | THR | 5a5h_H | PDB | Neutral | none predicted | - | - | 4.102e-06 | rs767430426 | ENST00000223029 | deleterious(0) | probably_damaging(0.996) | - | GST_C | 7:6063119 | 7:6023488 | 4 | 4.73 |
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254 | 254 | ALA | PRO | 5a5h_H | PDB | Neutral | none predicted | - | - | 4.102e-06 | rs767430426 | ENST00000223029 | deleterious(0) | probably_damaging(0.996) | - | GST_C | 7:6063119 | 7:6023488 | 4 | 4.73 |
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255 | 255 | VAL | ILE | 5a5h_H | PDB | Neutral | none predicted | - | - | 4.102e-06 | rs750657628 | ENST00000223029 | deleterious(0) | probably_damaging(0.916) | - | GST_C | 7:6063122 | 7:6023491 | 20 | 5.51 |
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256 | 256 | PHE | CYS | 5a5h_H | PDB | Neutral | none predicted | - | - | - | rs1198048843 | ENST00000223029 | deleterious(0) | possibly_damaging(0.662) | - | GST_C | 7:6063126 | 7:6023495 | 20 | 5.51 |
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257 | 257 | ARG | CYS | 5a5h_H | PDB | Neutral | none predicted | - | - | 8.205e-06 | rs760946189 | ENST00000223029 | deleterious(0.01) | benign(0.056) | - | GST_C | 7:6063128 | 7:6023497 | 0 | 4.62 |
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257 | 257 | ARG | HIS | 5a5h_H | PDB | Neutral | none predicted | - | - | 0.0001108 | rs145632958 | ENST00000223029 | deleterious(0) | possibly_damaging(0.9) | - | GST_C | 7:6063129 | 7:6023498 | 14 | 5.51 |
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257 | 257 | ARG | LEU | 5a5h_H | PDB | Neutral | none predicted | - | - | - | - | - | deleterious(0.01) | possibly_damaging(0.791) | - | GST_C | - | - | - | - |
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259 | 259 | MET | THR | 5a5h_H | PDB | Neutral | none predicted | - | - | 8.203e-06 | rs1250422075 | ENST00000223029 | deleterious(0) | possibly_damaging(0.647) | - | GST_C | 7:6063135 | 7:6023504 | 0 | 5.61 |
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259 | 259 | MET | ILE | 5a5h_H | PDB | Neutral | none predicted | - | - | 4.102e-06 | rs375888796 | ENST00000223029 | deleterious(0.01) | benign(0.295) | - | GST_C | 7:6063136 | 7:6023505 | 44 | 4.7 |
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259 | 259 | MET | VAL | 5a5h_H | PDB | Neutral | none predicted | - | - | 2.051e-05 | rs755273615 | ENST00000223029 | deleterious(0.01) | benign(0.143) | - | GST_C | 7:6063134 | 7:6023503 | 0 | 4.46 |
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261 | 261 | SER | PHE | 5a5h_H | PDB | Neutral | none predicted | - | - | - | - | - | deleterious(0) | probably_damaging(0.94) | - | GST_C | - | - | - | - |
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263 | 263 | LEU | VAL | 5a5h_H | PDB | Neutral | none predicted | - | - | 4.102e-06 | rs757926814 | ENST00000223029 | deleterious(0) | probably_damaging(0.998) | - | GST_C | 7:6063146 | 7:6023515 | 9 | 4.72 |
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264 | 264 | GLY | GLU | 5a5h_H | PDB | Neutral | none predicted | - | - | 8.204e-06 | rs777357626 | ENST00000223029 | deleterious(0) | probably_damaging(0.993) | - | GST_C | 7:6063150 | 7:6023519 | 48 | 4.72 |
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266 | 266 | SER | ASN | 5a5h_H | PDB | Neutral | none predicted | - | - | - | rs1490291771 | ENST00000223029 | tolerated(0.14) | benign(0.018) | - | GST_C | 7:6063156 | 7:6023525 | 48 | 4.73 |
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268 | 268 | TRP | GLY | 5a5h_H | PDB | Neutral | none predicted | - | - | 4.102e-06 | rs1189420601 | ENST00000223029 | deleterious(0) | probably_damaging(0.999) | - | GST_C | 7:6063161 | 7:6023530 | 20 | 5.61 |
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268 | 268 | TRP | SER | 5a5h_H | PDB | Neutral | none predicted | - | - | - | rs997976538 | ENST00000223029 | deleterious(0) | probably_damaging(0.999) | - | GST_C | 7:6063162 | 7:6023531 | 20 | 5.62 |
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270 | 270 | ALA | THR | 5a5h_H | PDB | Neutral | none predicted | - | - | - | rs770771902 | ENST00000223029 | tolerated(0.1) | benign(0.015) | - | GST_C | 7:6063167 | 7:6023536 | 27 | 5.62 |
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270 | 270 | ALA | SER | 5a5h_H | PDB | Neutral | none predicted | - | - | - | rs770771902 | ENST00000223029 | tolerated(0.1) | benign(0.015) | - | GST_C | 7:6063167 | 7:6023536 | 27 | 5.62 |
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272 | 272 | ASN | SER | 5a5h_H | PDB | Neutral | none predicted | - | - | 4.102e-06 | rs780972148 | ENST00000223029 | tolerated(1) | benign(0.003) | - | GST_C | 7:6063174 | 7:6023543 | 48 | 1.88 |
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275 | 275 | THR | ASN | 5a5h_H | PDB | Neutral | none predicted | - | - | - | rs1468784875 | ENST00000223029 | deleterious(0.02) | possibly_damaging(0.659) | - | GST_C | 7:6063183 | 7:6023552 | 48 | 4.73 |
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276 | 276 | VAL | ILE | 5a5h_H | PDB | Neutral | none predicted | - | - | 0.0003282 | rs147246097 | ENST00000223029 | tolerated(0.11) | benign(0.254) | - | GST_C | 7:6063185 | 7:6023554 | 37 | 5.62 |
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279 | 279 | VAL | GLY | 5a5h_H | PDB | Neutral | none predicted | - | - | - | rs1160401203 | ENST00000223029 | deleterious(0) | possibly_damaging(0.806) | - | GST_C | 7:6063195 | 7:6023564 | 20 | 5.62 |
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279 | 279 | VAL | MET | 5a5h_H | PDB | Neutral | none predicted | - | - | 2.051e-05 | rs374123170 | ENST00000223029 | deleterious(0.03) | benign(0.32) | - | GST_C | 7:6063194 | 7:6023563 | 20 | 2.46 |
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280 | 280 | VAL | MET | 5a5h_H | PDB | Neutral | none predicted | - | - | - | rs893082791 | ENST00000223029 | deleterious(0.01) | probably_damaging(0.919) | - | GST_C | 7:6063197 | 7:6023566 | 20 | 4.74 |
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281 | 281 | LEU | VAL | 5a5h_H | PDB | Neutral | none predicted | - | - | - | rs1368842334 | ENST00000223029 | tolerated(0.25) | benign(0.029) | - | GST_C | 7:6063200 | 7:6023569 | 0 | 0.2 |
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281 | 281 | LEU | PRO | 5a5h_H | PDB | Damaging | Buried Pro introduced | - | - | 8.204e-06 | rs773350468 | ENST00000223029 | tolerated(0.15) | possibly_damaging(0.663) | - | GST_C | 7:6063201 | 7:6023570 | 4 | 4.49 |
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282 | 282 | TRP | SER | 5a5h_H | PDB | Neutral | none predicted | - | - | 4.102e-06 | rs760716532 | ENST00000223029 | deleterious(0) | possibly_damaging(0.835) | - | GST_C | 7:6063204 | 7:6023573 | 4 | 5.62 |
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283 | 283 | SER | PHE | 5a5h_H | PDB | Damaging | Buried H-bond breakage | - | - | 4.102e-06 | rs754007971 | ENST00000223029 | deleterious(0.04) | possibly_damaging(0.65) | - | GST_C | 7:6063207 | 7:6023576 | 1 | 4.73 |
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284 | 284 | VAL | LEU | 5a5h_H | PDB | Neutral | none predicted | - | - | 4.102e-06 | rs759973375 | ENST00000223029 | tolerated(0.09) | benign(0.054) | - | GST_C | 7:6063209 | 7:6023578 | 4 | 5.62 |
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284 | 284 | VAL | ILE | 5a5h_H | PDB | Neutral | none predicted | - | - | 4.102e-06 | rs759973375 | ENST00000223029 | tolerated(0.09) | benign(0.054) | - | GST_C | 7:6063209 | 7:6023578 | 4 | 5.62 |
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284 | 284 | VAL | ALA | 5a5h_H | PDB | Neutral | none predicted | - | - | - | rs1374586427 | ENST00000223029 | tolerated(0.88) | benign(0) | - | GST_C | 7:6063210 | 7:6023579 | 4 | 0.79 |
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285 | 285 | LEU | PHE | 5a5h_H | PDB | Neutral | none predicted | - | - | 1.231e-05 | rs765449737 | ENST00000223029 | deleterious(0.01) | possibly_damaging(0.806) | - | GST_C | 7:6063212 | 7:6023581 | 9 | 4.75 |
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286 | 286 | GLN | ARG | 5a5h_H | PDB | Neutral | none predicted | - | - | 9.435e-05 | rs758885310 | ENST00000223029 | tolerated(0.94) | benign(0) | - | GST_C | 7:6063216 | 7:6023585 | 9 | 3.25 |
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287 | 287 | GLN | PRO | 5a5h_H | PDB | Damaging | Secondary structure altered; Cavity altered | - | - | - | rs1477363279 | ENST00000223029 | deleterious(0) | possibly_damaging(0.887) | - | GST_C | 7:6063219 | 7:6023588 | 0 | 4.46 |
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287 | 287 | GLN | HIS | 5a5h_H | PDB | Damaging | Cavity altered | - | - | 7.383e-05 | rs189587013 | ENST00000223029 | deleterious(0.01) | probably_damaging(0.94) | - | GST_C | 7:6063220 | 7:6023589 | 0 | 3.79 |
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288 | 288 | ILE | PHE | 5a5h_H | PDB | Neutral | none predicted | - | - | - | rs751152417 | ENST00000223029 | deleterious(0) | benign(0.003) | - | GST_C | 7:6063221 | 7:6023590 | 4 | -2.26 |
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288 | 288 | ILE | VAL | 5a5h_H | PDB | Neutral | none predicted | - | - | - | rs751152417 | ENST00000223029 | deleterious(0) | benign(0.003) | - | GST_C | 7:6063221 | 7:6023590 | 4 | -2.26 |
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289 | 289 | GLY | ARG | 5a5h_H | PDB | Neutral | none predicted | - | - | 6.973e-05 | rs745445513 | ENST00000223029 | deleterious(0.01) | probably_damaging(0.998) | - | GST_C | 7:6063224 | 7:6023593 | 53 | 5.61 |
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291 | 291 | CYS | TRP | 5a5h_H | PDB | Damaging | Clash | - | - | - | - | - | deleterious(0.01) | possibly_damaging(0.498) | - | GST_C | - | - | - | - |
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291 | 291 | CYS | PHE | 5a5h_H | PDB | Neutral | none predicted | - | - | - | - | - | deleterious(0.02) | benign(0.167) | - | GST_C | - | - | - | - |
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292 | 292 | SER | GLY | 5a5h_H | PDB | Neutral | none predicted | - | - | 0.0002 | rs565466567 | ENST00000223029 | tolerated(0.26) | benign(0) | - | GST_C | 7:6063233 | 7:6023602 | 53 | -1.29 |
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293 | 293 | VAL | MET | 5a5h_H | PDB | Neutral | none predicted | - | - | 4.102e-06 | rs1417372255 | ENST00000223029 | deleterious(0.04) | benign(0.001) | - | GST_C | 7:6063236 | 7:6023605 | 20 | 1.51 |
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295 | 295 | VAL | LEU | 5a5h_H | PDB | Neutral | none predicted | - | - | 4.102e-06 | rs749107344 | ENST00000223029 | tolerated(0.11) | benign(0.079) | - | GST_C | 7:6063242 | 7:6023611 | 9 | 5.35 |
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295 | 295 | VAL | MET | 5a5h_H | PDB | Neutral | none predicted | - | - | 4.102e-06 | rs749107344 | ENST00000223029 | tolerated(0.11) | benign(0.079) | - | GST_C | 7:6063242 | 7:6023611 | 9 | 5.35 |
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296 | 296 | PRO | LEU | 5a5h_H | PDB | Neutral | none predicted | - | - | 8.203e-06 | rs1022792814 | ENST00000223029 | deleterious(0) | probably_damaging(0.999) | - | GST_C | 7:6063246 | 7:6023615 | 1 | 5.35 |
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297 | 297 | ALA | GLY | 5a5h_H | PDB | Neutral | none predicted | - | - | 8.203e-06 | rs371505435 | ENST00000223029 | tolerated(0.06) | benign(0.258) | - | GST_C | 7:6063249 | 7:6023618 | 9 | 4.47 |
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297 | 297 | ALA | SER | 5a5h_H | PDB | Neutral | none predicted | - | - | 4.102e-06 | rs768623646 | ENST00000223029 | tolerated(0.23) | benign(0.017) | - | GST_C | 7:6063248 | 7:6023617 | 9 | 3.5 |
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298 | 298 | ASN | SER | 5a5h_H | PDB | Neutral | none predicted | - | - | 1.23e-05 | rs1296854295 | ENST00000223029 | tolerated(0.05) | benign(0.067) | - | GST_C | 7:6063252 | 7:6023621 | 32 | 2.71 |
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301 | 301 | ARG | GLY | 5a5h_H | PDB | Neutral | none predicted | - | - | 4.102e-06 | rs1400949174 | ENST00000223029 | deleterious(0) | benign(0.217) | - | GST_C | 7:6063260 | 7:6023629 | 20 | 2.85 |
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303 | 303 | MET | VAL | 5a5h_H | PDB | Neutral | none predicted | - | - | 4.101e-06 | rs1278445417 | ENST00000223029 | tolerated(0.25) | benign(0.003) | - | GST_C | 7:6063266 | 7:6023635 | 1 | 0.22 |
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303 | 303 | MET | ILE | 5a5h_H | PDB | Neutral | none predicted | - | - | 8.203e-06 | rs375897273 | ENST00000223029 | tolerated(0.42) | benign(0) | - | GST_C | 7:6063268 | 7:6023637 | 32 | 2.48 |
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304 | 304 | ARG | LYS | 5a5h_H | PDB | Neutral | none predicted | - | - | - | rs1450412066 | ENST00000223029 | tolerated(1) | benign(0) | - | GST_C | 7:6063270 | 7:6023639 | 32 | -0.34 |
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306 | 306 | CYS | TYR | 5a5h_H | PDB | Damaging | Clash | - | - | 8.204e-06 | rs1291481810 | ENST00000223029 | deleterious(0) | probably_damaging(0.999) | - | - | 7:6063276 | 7:6023645 | 0 | 5.35 |
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306 | 306 | CYS | TRP | 5a5h_H | PDB | Damaging | Clash; Buried H-bond breakage | - | - | 4.102e-06 | rs368862792 | ENST00000223029 | deleterious(0) | probably_damaging(1) | - | - | 7:6063277 | 7:6023646 | 27 | 0.39 |
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309 | 309 | LEU | VAL | 5a5h_H | PDB | Neutral | none predicted | - | - | 4.102e-06 | rs1283740223 | ENST00000223029 | deleterious(0.03) | probably_damaging(0.963) | - | - | 7:6063284 | 7:6023653 | 4 | 4.46 |
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310 | 310 | ALA | GLY | 5a5h_H | PDB | Neutral | none predicted | - | - | 8.205e-06 | rs1194037382 | ENST00000223029 | tolerated(0.43) | benign(0.006) | - | - | 7:6063288 | 7:6023657 | 20 | 4.47 |
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310 | 310 | ALA | THR | 5a5h_H | PDB | Neutral | none predicted | - | - | 4.102e-06 | rs765484017 | ENST00000223029 | deleterious(0.02) | benign(0.167) | - | - | 7:6063287 | 7:6023656 | 0 | 5.35 |
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312 | 312 | PHE | SER | 5a5h_H | PDB | Neutral | none predicted | - | - | 4.102e-06 | rs1257101048 | ENST00000223029 | deleterious(0) | probably_damaging(0.949) | - | - | 7:6063294 | 7:6023663 | 1 | 4.2 |
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313 | 313 | ASN | HIS | 5a5h_H | PDB | Neutral | none predicted | - | - | 4.102e-06 | rs1471966476 | ENST00000223029 | tolerated(0.29) | benign(0.003) | - | - | 7:6063296 | 7:6023665 | 9 | 2.95 |
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314 | 314 | THR | MET | 5a5h_H | PDB | Neutral | none predicted | - | - | 6.975e-05 | rs372238513 | ENST00000223029 | tolerated(0.18) | possibly_damaging(0.505) | - | - | 7:6063300 | 7:6023669 | 1 | 1.3 |
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316 | 316 | LEU | PHE | 5a5h_H | PDB | Neutral | none predicted | - | - | - | rs751316385 | ENST00000223029 | tolerated(0.07) | possibly_damaging(0.751) | - | - | 7:6063305 | 7:6023674 | 20 | 2.43 |
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316 | 316 | LEU | VAL | 5a5h_H | PDB | Neutral | none predicted | - | - | - | rs751316385 | ENST00000223029 | tolerated(0.07) | possibly_damaging(0.751) | - | - | 7:6063305 | 7:6023674 | 20 | 2.43 |
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318 | 318 | LEU | PHE | 5a5h_H | PDB | Neutral | none predicted | - | - | 1.23e-05 | rs1420707837 | ENST00000223029 | tolerated(0.18) | benign(0.054) | - | - | 7:6063311 | 7:6023680 | 20 | 3.56 |
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320 | 320 | LYS | MET | 5a5h_F | PDB | Neutral | none predicted | - | - | - | rs1236532294 | ENST00000223029 | deleterious_low_confidence(0) | possibly_damaging(0.694) | - | - | 7:6063318 | 7:6023687 | 0 | 5.35 |
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320 | 320 | LYS | GLN | 5a5h_F | PDB | Neutral | none predicted | - | - | 4.1e-06 | rs1445406759 | ENST00000223029 | tolerated_low_confidence(0.7) | benign(0.009) | - | - | 7:6063317 | 7:6023686 | 1 | -3.74 |
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320 | 320 | LYS | ASN | 5a5h_F | PDB | Neutral | none predicted | - | - | 1.23e-05 | rs79993082 | ENST00000223029 | deleterious_low_confidence(0.01) | benign(0.265) | - | - | 7:6063319 | 7:6023688 | 9 | 5.35 |
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150 | 150 | SER | PRO | 5a5h_H | PDB | Neutral | none predicted | - | - | 1.223e-05 | rs150874145 | ENST00000395236 | tolerated(0.16) | possibly_damaging(0.905) | - | Thioredoxin_16 | 7:6063014 | 7:6023383 | 0 | 5.27 |
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