Missense3D-DB results

(structural effect of missense variants)

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.

UniProt ID: Q9BRI3     Gene name: SLC30A2     pLI score: 0.71 tooltip info, click for explanation of pLI score     RVIS score: 0.11 (55.0 %) tooltip info, click for explanation of RVIS scores

tooltip info, click on the Download Report checkbox to display the column which supports the download of a custom report in the results table    tooltip info, click on the UniProt Position checkbox to display the uniprot position column in the results table    tooltip info, click on the PDB/Model Position checkbox to display the PDB or Model position column in the results table    tooltip info, click on the Residue Wildtype checkbox to display the wildtype residue column in the results table    tooltip info, click on the Residue Mutant checkbox to display the mutant residue column in the results table    tooltip info, click on the Structure checkbox to display the PDB/structure id column in the results table    tooltip info, click on the Structure Type checkbox to display the PDB/Phyre model column in the results table    tooltip info, click on the Missense3D Prediction checkbox to display the Missense3D Prediction column in the results table    tooltip info, click on the Structural damage predicted checkbox to display the column detailing whether structural damage is predicted in the results table    tooltip info, click on the Humsavar annotation checkbox to display the Humsavar annotation column in the results table    tooltip info, click on the ClinVar annotation checkbox to display the ClinVar annotation column in the results table    tooltip info, click on the MAF score checkbox to display the MAF score column in the results table    tooltip info, click on the dbSNP checkbox to display the dbSNP id column in the results table    tooltip info, click on the Ensemble ID checkbox to display the Ensemble ID column in the results table    tooltip info, click on the SIFT prediction(score) checkbox to display the SIFT prediction and score column in the results table    tooltip info, click on the PolyPhen-2 prediction(score) checkbox to display the PolyPhen-2 prediction and score column in the results table    tooltip info, click on the Interface(source RCSB) checkbox to display the Interface column in the results table    tooltip info, click on the Pfam domain checkbox to display the Pfam domain id column in the results table    tooltip info, click on the Location (GRCh37) checkbox to display the column containing the GRCh37 Chromosome location in the results table    tooltip info, click on the Location (GRCh38) checkbox to display the column containing the GRCh38 Chromosome location in the results table    tooltip info, click on the CCR percentile checkbox to display the conserved coding region percentile column in the results table    tooltip info, click on the GERP score checkbox to display the GERP score column in the results table

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
link to download the report for this variant 54 54 HIS ARG 3J1Z_P MODEL Damaging Cavity altered Pathogenic - - rs587776926 ENST00000374276 deleterious(0) probably_damaging(0.993) - - 1:26371598 1:26045107 0 5.73
link to download the report for this variant 54 54 HIS TYR 3J1Z_P MODEL Damaging Cavity altered - - 4.061e-06 rs770139568 ENST00000374276 deleterious(0) probably_damaging(0.997) - - 1:26371599 1:26045108 83 5.73
link to download the report for this variant 56 56 GLN PRO 3J1Z_P MODEL Neutral none predicted - - - rs1274808805 ENST00000374276 tolerated(0.33) benign(0) - - 1:26371592 1:26045101 60 3.43
link to download the report for this variant 58 58 GLY SER 3J1Z_P MODEL Neutral none predicted - - - rs571313675 ENST00000374276 tolerated(0.61) benign(0.003) - - 1:26371587 1:26045096 60 2.88
link to download the report for this variant 58 58 GLY ALA 3J1Z_P MODEL Neutral none predicted - - 4.061e-06 rs141752286 ENST00000374276 tolerated(0.59) benign(0.003) - - 1:26371586 1:26045095 60 -0.18
link to download the report for this variant 58 58 GLY VAL 3J1Z_P MODEL Neutral none predicted - - 4.061e-06 rs141752286 ENST00000374276 tolerated(0.59) benign(0.003) - - 1:26371586 1:26045095 60 -0.18
link to download the report for this variant 58 58 GLY ASP 3J1Z_P MODEL Neutral none predicted - - 4.061e-06 rs141752286 ENST00000374276 tolerated(0.59) benign(0.003) - - 1:26371586 1:26045095 60 -0.18
link to download the report for this variant 64 64 ASP ASN 3J1Z_P MODEL Neutral none predicted - - - rs1289036407 ENST00000374276 tolerated(0.35) benign(0.003) - - 1:26371569 1:26045078 81 1.71
link to download the report for this variant 65 65 PRO ARG 3J1Z_P MODEL Neutral none predicted - - 4.061e-06 rs746634287 ENST00000374276 tolerated(0.81) benign(0.003) - - 1:26371565 1:26045074 81 1.3
link to download the report for this variant 65 65 PRO LEU 3J1Z_P MODEL Neutral none predicted - - 4.061e-06 rs746634287 ENST00000374276 tolerated(0.81) benign(0.003) - - 1:26371565 1:26045074 81 1.3
link to download the report for this variant 95 95 ALA THR 3J1Z_P MODEL Neutral none predicted - - 4.083e-06 rs1047754678 ENST00000374276 deleterious(0.04) probably_damaging(0.945) - Cation_efflux 1:26370924 1:26044433 77 5.72
link to download the report for this variant 164 164 GLU LYS 3J1Z_P MODEL Neutral none predicted - - 0.0001016 rs199594277 ENST00000374276 tolerated(0.14) benign(0.06) - Cation_efflux 1:26369971 1:26043480 13 2.35
link to download the report for this variant 164 164 GLU GLN 3J1Z_P MODEL Neutral none predicted - - 0.0001016 rs199594277 ENST00000374276 tolerated(0.14) benign(0.06) - Cation_efflux 1:26369971 1:26043480 13 2.35
link to download the report for this variant 164 164 GLU ALA 3J1Z_P MODEL Neutral none predicted - - - rs1462382932 ENST00000374276 tolerated(0.15) benign(0.022) - Cation_efflux 1:26369970 1:26043479 0 5.46
link to download the report for this variant 182 182 SER LEU 3J1Z_P MODEL Damaging Buried H-bond breakage - - - rs1429634625 ENST00000374276 deleterious(0) probably_damaging(0.988) - Cation_efflux 1:26369916 1:26043425 43 5.6
link to download the report for this variant 191 191 ILE MET 3J1Z_P MODEL Neutral none predicted - - 4.074e-06 rs1219015034 ENST00000374276 deleterious(0.03) benign(0.272) - Cation_efflux 1:26369199 1:26042708 - 0.26
link to download the report for this variant 191 191 ILE THR 3J1Z_P MODEL Neutral none predicted - - 8.153e-06 rs776195536 ENST00000374276 deleterious(0) benign(0.043) - Cation_efflux 1:26369889 1:26043398 18 3.14
link to download the report for this variant 224 224 VAL ALA 3J1Z_P MODEL Neutral none predicted - - 8.122e-06 rs1170235044 ENST00000374276 tolerated(0.34) benign(0.359) - Cation_efflux 1:26369101 1:26042610 30 5.92
link to download the report for this variant 229 229 MET LEU 3J1Z_P MODEL Neutral none predicted - - 4.061e-06 rs1256216661 ENST00000374276 tolerated(1) benign(0) - Cation_efflux 1:26369087 1:26042596 25 3.06
link to download the report for this variant 229 229 MET ILE 3J1Z_P MODEL Neutral none predicted - - 4.061e-06 rs1187918977 ENST00000374276 tolerated(0.22) benign(0) - Cation_efflux 1:26369085 1:26042594 3 -0.45
link to download the report for this variant 291 291 ARG CYS 3J1Z_P MODEL Neutral none predicted - - - - - tolerated(0.11) benign(0.022) - - - - - -
link to download the report for this variant 291 291 ARG HIS 3J1Z_P MODEL Neutral none predicted - - 0.0006053 rs149340896 ENST00000374276 deleterious(0.03) benign(0.022) - - 1:26366369 1:26039878 0 0.36
link to download the report for this variant 57 57 LYS ASN 3J1Z_P MODEL Neutral none predicted - - - - - tolerated(0.34) benign(0.001) - - - - - -
link to download the report for this variant 66 66 LYS ASN 3J1Z_P MODEL Neutral none predicted - - - - - tolerated(0.06) benign(0.063) - - - - - -
link to download the report for this variant 91 91 GLU LYS 3J1Z_P MODEL Neutral none predicted - - 0.0 rs1295815835 ENST00000374278 deleterious(0.01) possibly_damaging(0.62) - Cation_efflux 1:26371488 1:26044997 13 5.91
link to download the report for this variant 95 95 ALA SER 3J1Z_P MODEL Neutral none predicted - - 8.167e-06 rs769332895 ENST00000374278 deleterious(0.02) probably_damaging(0.923) - Cation_efflux 1:26370031 1:26043540 92 5.36
link to download the report for this variant 97 97 VAL PHE 3J1Z_P MODEL Neutral none predicted - - 8.155e-06 rs748052043 ENST00000374278 deleterious(0.03) benign(0.014) - Cation_efflux 1:26370025 1:26043534 25 -3.59
link to download the report for this variant 102 102 ILE PHE 3J1Z_P MODEL Neutral none predicted - - 4.068e-06 rs1210926990 ENST00000374278 deleterious(0) probably_damaging(0.995) - Cation_efflux 1:26370010 1:26043519 67 5.36
link to download the report for this variant 105 105 VAL MET 3J1Z_P MODEL Neutral none predicted - - 1.22e-05 rs779729990 ENST00000374278 deleterious(0.03) possibly_damaging(0.861) - Cation_efflux 1:26370001 1:26043510 42 5.36
link to download the report for this variant 106 106 THR MET 3J1Z_P MODEL Neutral none predicted - - 1.22e-05 rs370485489 ENST00000374278 deleterious(0) probably_damaging(0.975) - Cation_efflux 1:26369997 1:26043506 9 5.36
link to download the report for this variant 107 107 GLY TRP 3J1Z_P MODEL Neutral none predicted - - - rs1393993050 ENST00000374278 deleterious(0) probably_damaging(0.999) - Cation_efflux 1:26369995 1:26043504 9 5.36
link to download the report for this variant 107 107 GLY VAL 3J1Z_P MODEL Neutral none predicted - - 4.067e-06 rs764241797 ENST00000374278 deleterious(0) possibly_damaging(0.838) - Cation_efflux 1:26369994 1:26043503 9 5.36
link to download the report for this variant 108 108 VAL ILE 3J1Z_P MODEL Neutral none predicted - - 1.627e-05 rs571054223 ENST00000374278 tolerated(0.14) benign(0.02) - Cation_efflux 1:26369992 1:26043501 3 2.46
link to download the report for this variant 108 108 VAL LEU 3J1Z_P MODEL Neutral none predicted - - 1.627e-05 rs571054223 ENST00000374278 tolerated(0.14) benign(0.02) - Cation_efflux 1:26369992 1:26043501 3 2.46
link to download the report for this variant 115 115 GLU GLN 3J1Z_P MODEL Neutral none predicted - - 0.0001016 rs199594277 ENST00000374278 tolerated(0.15) benign(0.042) - Cation_efflux 1:26369971 1:26043480 13 2.35
link to download the report for this variant 115 115 GLU LYS 3J1Z_P MODEL Neutral none predicted - - 0.0001016 rs199594277 ENST00000374278 tolerated(0.15) benign(0.042) - Cation_efflux 1:26369971 1:26043480 13 2.35
link to download the report for this variant 115 115 GLU ALA 3J1Z_P MODEL Neutral none predicted - - - rs1462382932 ENST00000374278 tolerated(0.17) benign(0.099) - Cation_efflux 1:26369970 1:26043479 0 5.46
link to download the report for this variant 116 116 ARG TRP 3J1Z_P MODEL Neutral none predicted - - 4.066e-06 rs772899336 ENST00000374278 deleterious(0) probably_damaging(1) - Cation_efflux 1:26369968 1:26043477 8 2.56
link to download the report for this variant 116 116 ARG GLN 3J1Z_P MODEL Neutral none predicted - - 1.219e-05 rs769455773 ENST00000374278 deleterious(0) probably_damaging(1) - Cation_efflux 1:26369967 1:26043476 0 5.46
link to download the report for this variant 117 117 LEU PRO 3J1Z_P MODEL Neutral none predicted - - 4.064e-06 rs1339330203 ENST00000374278 deleterious(0) probably_damaging(0.987) - Cation_efflux 1:26369964 1:26043473 8 5.46
link to download the report for this variant 118 118 ILE LEU 3J1Z_P MODEL Neutral none predicted - - 8.129e-06 rs1311616723 ENST00000374278 tolerated(1) benign(0.006) - Cation_efflux 1:26369962 1:26043471 3 3.12
link to download the report for this variant 120 120 GLY ALA 3J1Z_P MODEL Neutral none predicted - - - rs747614578 ENST00000374278 tolerated(0.24) benign(0.179) - Cation_efflux 1:26369955 1:26043464 85 5.46
link to download the report for this variant 122 122 TYR CYS 3J1Z_P MODEL Neutral none predicted - - - rs951294636 ENST00000374278 deleterious(0) probably_damaging(0.922) - Cation_efflux 1:26369949 1:26043458 85 4.34
link to download the report for this variant 126 126 GLY GLU 3J1Z_P MODEL Neutral none predicted - - 4.063e-06 rs1168338060 ENST00000374278 deleterious(0.03) benign(0.114) - Cation_efflux 1:26369937 1:26043446 0 4.54
link to download the report for this variant 126 126 GLY ARG 3J1Z_P MODEL Neutral none predicted - - 5.69e-05 rs779896941 ENST00000374278 deleterious(0) possibly_damaging(0.797) - Cation_efflux 1:26369938 1:26043447 85 3.59
link to download the report for this variant 126 126 GLY TRP 3J1Z_P MODEL Neutral none predicted - - 5.69e-05 rs779896941 ENST00000374278 deleterious(0) possibly_damaging(0.797) - Cation_efflux 1:26369938 1:26043447 85 3.59
link to download the report for this variant 127 127 GLY VAL 3J1Z_P MODEL Neutral none predicted - - 2.032e-05 rs758171790 ENST00000374278 tolerated(0.29) benign(0.026) - Cation_efflux 1:26369934 1:26043443 8 -2.74
link to download the report for this variant 128 128 THR ASN 3J1Z_P MODEL Neutral none predicted - - - rs1206569581 ENST00000374278 deleterious(0) possibly_damaging(0.808) - Cation_efflux 1:26369931 1:26043440 60 4.55
link to download the report for this variant 130 130 LEU MET 3J1Z_P MODEL Neutral none predicted - - - rs1481902068 ENST00000374278 deleterious(0) possibly_damaging(0.842) - Cation_efflux 1:26369926 1:26043435 60 3.58
link to download the report for this variant 130 130 LEU PRO 3J1Z_P MODEL Neutral none predicted - - - rs1264093757 ENST00000374278 deleterious(0) probably_damaging(0.996) - Cation_efflux 1:26369925 1:26043434 60 5.46
link to download the report for this variant 131 131 ILE MET 3J1Z_P MODEL Neutral none predicted - - 4.063e-06 rs1185769506 ENST00000374278 deleterious(0) probably_damaging(0.958) - Cation_efflux 1:26369921 1:26043430 60 3.67
link to download the report for this variant 132 132 THR MET 3J1Z_P MODEL Neutral none predicted - - 8.127e-06 rs148861822 ENST00000374278 deleterious(0) probably_damaging(0.99) - Cation_efflux 1:26369919 1:26043428 3 5.6
link to download the report for this variant 133 133 SER LEU 3J1Z_P MODEL Damaging Buried H-bond breakage - - - rs1429634625 ENST00000374278 deleterious(0) probably_damaging(0.974) - Cation_efflux 1:26369916 1:26043425 43 5.6
link to download the report for this variant 134 134 GLY VAL 3J1Z_P MODEL Neutral none predicted - - - - - deleterious(0) benign(0.297) - Cation_efflux - - - -
link to download the report for this variant 136 136 ALA THR 3J1Z_P MODEL Neutral none predicted - - 8.132e-06 rs767551005 ENST00000374278 deleterious(0) probably_damaging(0.934) - Cation_efflux 1:26369908 1:26043417 43 4.68
link to download the report for this variant 136 136 ALA SER 3J1Z_P MODEL Neutral none predicted - - 8.132e-06 rs767551005 ENST00000374278 deleterious(0) probably_damaging(0.934) - Cation_efflux 1:26369908 1:26043417 43 4.68
link to download the report for this variant 138 138 ALA SER 3J1Z_P MODEL Neutral none predicted - - 4.068e-06 rs199807670 ENST00000374278 deleterious(0.02) possibly_damaging(0.653) - Cation_efflux 1:26369902 1:26043411 25 5.6
link to download the report for this variant 139 139 VAL MET 3J1Z_P MODEL Neutral none predicted - - 2.035e-05 rs763251118 ENST00000374278 deleterious(0.01) possibly_damaging(0.823) - Cation_efflux 1:26369899 1:26043408 8 5.6
link to download the report for this variant 140 140 ASN LYS 3J1Z_P MODEL Neutral none predicted - - 4.072e-06 rs200520278 ENST00000374278 deleterious(0) probably_damaging(0.999) - Cation_efflux 1:26369894 1:26043403 18 0.63
link to download the report for this variant 141 141 ILE THR 3J1Z_P MODEL Neutral none predicted - - - rs761464865 ENST00000374278 deleterious(0.02) benign(0.219) - Cation_efflux 1:26369892 1:26043401 18 5.49
link to download the report for this variant 142 142 ILE MET 3J1Z_P MODEL Neutral none predicted - - 4.074e-06 rs1219015034 ENST00000374278 deleterious(0.04) possibly_damaging(0.703) - Cation_efflux 1:26369199 1:26042708 - 0.26
link to download the report for this variant 142 142 ILE THR 3J1Z_P MODEL Neutral none predicted - - 8.153e-06 rs776195536 ENST00000374278 deleterious(0) benign(0.403) - Cation_efflux 1:26369889 1:26043398 18 3.14
link to download the report for this variant 143 143 MET THR 3J1Z_P MODEL Neutral none predicted - - - rs1347754178 ENST00000374278 deleterious(0) benign(0.031) - Cation_efflux 1:26369197 1:26042706 13 5.92
link to download the report for this variant 144 144 GLY ARG 3J1Z_P MODEL Damaging Clash - - 4.069e-06 rs748607852 ENST00000374278 deleterious(0.03) possibly_damaging(0.774) - Cation_efflux 1:26369195 1:26042704 13 5.92
link to download the report for this variant 146 146 THR ILE 3J1Z_P MODEL Neutral none predicted - - 4.065e-06 rs1436063314 ENST00000374278 tolerated(1) benign(0.001) - Cation_efflux 1:26369188 1:26042697 30 0.8
link to download the report for this variant 148 148 HIS ARG 3J1Z_P MODEL Neutral none predicted - - 4.064e-06 rs750998368 ENST00000374278 deleterious(0.01) benign(0.127) - Cation_efflux 1:26369182 1:26042691 25 5.92
link to download the report for this variant 151 151 GLY ASP 3J1Z_P MODEL Damaging Buried Gly replaced; Buried / exposed switch - - 0.0004 rs201917367 ENST00000374278 tolerated(0.07) benign(0.046) - Cation_efflux 1:26369173 1:26042682 56 4.91
link to download the report for this variant 152 152 HIS ARG 3J1Z_P MODEL Neutral none predicted - - 4.062e-06 rs1360833641 ENST00000374278 tolerated(0.1) probably_damaging(0.988) - Cation_efflux 1:26369170 1:26042679 56 5.92
link to download the report for this variant 155 155 SER ASN 3J1Z_P MODEL Neutral none predicted - - 1.218e-05 rs1176649861 ENST00000374278 tolerated(0.23) possibly_damaging(0.612) - Cation_efflux 1:26369161 1:26042670 42 5.92
link to download the report for this variant 156 156 HIS ASP 3J1Z_P MODEL Neutral none predicted - - 4.061e-06 rs377645638 ENST00000374278 deleterious(0.02) probably_damaging(0.976) - Cation_efflux 1:26369159 1:26042668 3 5.92
link to download the report for this variant 157 157 GLY SER 3J1Z_P MODEL Neutral none predicted - - 4.468e-05 rs760380190 ENST00000374278 tolerated(0.15) possibly_damaging(0.577) - Cation_efflux 1:26369156 1:26042665 8 3.02
link to download the report for this variant 157 157 GLY ARG 3J1Z_P MODEL Neutral none predicted - - 4.468e-05 rs760380190 ENST00000374278 tolerated(0.15) possibly_damaging(0.577) - Cation_efflux 1:26369156 1:26042665 8 3.02
link to download the report for this variant 157 157 GLY ASP 3J1Z_P MODEL Neutral none predicted - - 4.061e-06 rs752091122 ENST00000374278 tolerated(0.11) possibly_damaging(0.782) - Cation_efflux 1:26369155 1:26042664 0 -4.25
link to download the report for this variant 157 157 GLY CYS 3J1Z_P MODEL Neutral none predicted - - - - - deleterious(0) probably_damaging(0.998) - Cation_efflux - - - -
link to download the report for this variant 158 158 THR ALA 3J1Z_P MODEL Neutral none predicted - - 2.437e-05 rs767194713 ENST00000374278 tolerated(0.93) benign(0.003) - Cation_efflux 1:26369153 1:26042662 3 -1.02
link to download the report for this variant 160 160 ASN THR 3J1Z_P MODEL Neutral none predicted - - 4.061e-06 rs1184275189 ENST00000374278 tolerated(0.49) benign(0) - Cation_efflux 1:26369146 1:26042655 30 2.48
link to download the report for this variant 165 165 ASN LYS 3J1Z_P MODEL Neutral none predicted - - 4.061e-06 rs774477332 ENST00000374278 deleterious(0) probably_damaging(0.939) - Cation_efflux 1:26369130 1:26042639 3 5.01
link to download the report for this variant 166 166 PRO THR 3J1Z_P MODEL Neutral none predicted - - 0.0004508 rs551241711 ENST00000374278 tolerated(0.5) benign(0.006) - Cation_efflux 1:26369129 1:26042638 0 5.92
link to download the report for this variant 166 166 PRO ARG 3J1Z_P MODEL Neutral none predicted - - 4.061e-06 rs1229501025 ENST00000374278 deleterious(0.01) benign(0.356) - Cation_efflux 1:26369128 1:26042637 0 4.07
link to download the report for this variant 167 167 SER ARG 3J1Z_P MODEL Neutral none predicted - - 4.061e-06 rs1326085936 ENST00000374278 deleterious(0) probably_damaging(0.964) - Cation_efflux 1:26369124 1:26042633 13 -5.72
link to download the report for this variant 168 168 VAL LEU 3J1Z_P MODEL Neutral none predicted - - 2.436e-05 rs373747848 ENST00000374278 deleterious(0.04) possibly_damaging(0.572) - Cation_efflux 1:26369123 1:26042632 0 5.92
link to download the report for this variant 168 168 VAL ILE 3J1Z_P MODEL Neutral none predicted - - 2.436e-05 rs373747848 ENST00000374278 deleterious(0.04) possibly_damaging(0.572) - Cation_efflux 1:26369123 1:26042632 0 5.92
link to download the report for this variant 169 169 ARG GLN 3J1Z_P MODEL Neutral none predicted - - 1.624e-05 rs531195376 ENST00000374278 deleterious(0.05) possibly_damaging(0.899) - Cation_efflux 1:26369119 1:26042628 0 5.0
link to download the report for this variant 170 170 ALA THR 3J1Z_P MODEL Neutral none predicted - - - rs864622019 ENST00000374278 deleterious(0.02) probably_damaging(0.968) - Cation_efflux 1:26369117 1:26042626 36 5.92
link to download the report for this variant 172 172 PHE LEU 3J1Z_P MODEL Neutral none predicted - - 4.061e-06 rs1433987946 ENST00000374278 deleterious(0) benign(0.137) - Cation_efflux 1:26369111 1:26042620 36 4.8
link to download the report for this variant 173 173 ILE VAL 3J1Z_P MODEL Neutral none predicted - - 4.061e-06 rs1281708087 ENST00000374278 tolerated(1) benign(0.026) - Cation_efflux 1:26369108 1:26042617 0 1.99
link to download the report for this variant 175 175 VAL ALA 3J1Z_P MODEL Neutral none predicted - - 8.122e-06 rs1170235044 ENST00000374278 tolerated(0.4) benign(0.259) - Cation_efflux 1:26369101 1:26042610 30 5.92
link to download the report for this variant 177 177 GLY SER 3J1Z_P MODEL Neutral none predicted - - 3.249e-05 rs746355195 ENST00000374278 deleterious(0) possibly_damaging(0.7) - Cation_efflux 1:26369096 1:26042605 18 5.92
link to download the report for this variant 178 178 ASP ASN 3J1Z_P MODEL Neutral none predicted - - 1.218e-05 rs905698847 ENST00000374278 deleterious(0) probably_damaging(0.992) - Cation_efflux 1:26369093 1:26042602 8 5.92
link to download the report for this variant 180 180 MET LEU 3J1Z_P MODEL Neutral none predicted - - 4.061e-06 rs1256216661 ENST00000374278 tolerated(1) benign(0) - Cation_efflux 1:26369087 1:26042596 25 3.06
link to download the report for this variant 180 180 MET ILE 3J1Z_P MODEL Neutral none predicted - - 4.061e-06 rs1187918977 ENST00000374278 deleterious(0.03) benign(0) - Cation_efflux 1:26369085 1:26042594 3 -0.45
link to download the report for this variant 182 182 SER GLY 3J1Z_P MODEL Damaging Buried H-bond breakage - - 4.061e-06 rs1484975873 ENST00000374278 deleterious(0) possibly_damaging(0.86) - Cation_efflux 1:26369081 1:26042590 13 5.92
link to download the report for this variant 182 182 SER THR 3J1Z_P MODEL Neutral none predicted - - 4.061e-06 rs369755786 ENST00000374278 deleterious(0) possibly_damaging(0.872) - Cation_efflux 1:26369080 1:26042589 0 5.92
link to download the report for this variant 183 183 MET VAL 3J1Z_P MODEL Neutral none predicted - - 6.498e-05 rs144129605 ENST00000374278 tolerated(0.44) benign(0) - Cation_efflux 1:26369078 1:26042587 3 -11.8
link to download the report for this variant 183 183 MET LEU 3J1Z_P MODEL Damaging Clash - - 6.498e-05 rs144129605 ENST00000374278 tolerated(0.44) benign(0) - Cation_efflux 1:26369078 1:26042587 3 -11.8
link to download the report for this variant 183 183 MET ILE 3J1Z_P MODEL Neutral none predicted - - 4.061e-06 rs200039883 ENST00000374278 tolerated(1) benign(0) - Cation_efflux 1:26369076 1:26042585 3 2.74
link to download the report for this variant 184 184 GLY ASP 3J1Z_P MODEL Neutral none predicted - - 4.061e-06 rs201084300 ENST00000374278 deleterious(0.01) probably_damaging(0.998) - Cation_efflux 1:26369074 1:26042583 0 5.92
link to download the report for this variant 184 184 GLY ARG 3J1Z_P MODEL Neutral none predicted - - 4.061e-06 rs767112739 ENST00000374278 deleterious(0) probably_damaging(0.998) - Cation_efflux 1:26369075 1:26042584 0 5.01
link to download the report for this variant 189 189 ALA GLY 3J1Z_P MODEL Neutral none predicted - - 6.099e-05 rs766348408 ENST00000374278 deleterious(0) benign(0.116) - Cation_efflux 1:26369059 1:26042568 82 5.01
link to download the report for this variant 190 190 TYR CYS 3J1Z_P MODEL Neutral none predicted - - - rs770488198 ENST00000374278 deleterious(0.05) benign(0.043) - Cation_efflux 1:26369056 1:26042565 82 0.29
link to download the report for this variant 192 192 LEU VAL 3J1Z_P MODEL Neutral none predicted - - 8.129e-06 rs772867032 ENST00000374278 deleterious(0.05) benign(0.003) - Cation_efflux 1:26369051 1:26042560 0 -7.37
link to download the report for this variant 193 193 TYR HIS 3J1Z_P MODEL Neutral none predicted - - 4.065e-06 rs1309704648 ENST00000374278 deleterious(0.04) benign(0.127) - Cation_efflux 1:26369048 1:26042557 8 5.78
link to download the report for this variant 194 194 PHE VAL 3J1Z_P MODEL Neutral none predicted - - - - - deleterious(0.02) benign(0.1) - Cation_efflux - - - -
link to download the report for this variant 196 196 PRO ARG 3J1Z_P MODEL Damaging Cis pro replaced - - 4.074e-06 rs765967769 ENST00000374278 deleterious(0) probably_damaging(0.999) - Cation_efflux 1:26368295 1:26041804 46 5.54
link to download the report for this variant 197 197 GLU LYS 3J1Z_P MODEL Neutral none predicted - - 4.072e-06 rs758261486 ENST00000374278 deleterious(0) possibly_damaging(0.472) - Cation_efflux 1:26368293 1:26041802 3 5.54
link to download the report for this variant 201 201 VAL ILE 3J1Z_P MODEL Neutral none predicted - - 4.064e-06 rs764921143 ENST00000374278 tolerated(0.15) benign(0.006) - Cation_efflux 1:26368281 1:26041790 56 -1.08
link to download the report for this variant 203 203 PRO LEU 3J1Z_P MODEL Neutral none predicted - - 4.063e-06 rs1201477461 ENST00000374278 deleterious(0) probably_damaging(0.991) - Cation_efflux 1:26368274 1:26041783 30 5.78
link to download the report for this variant 204 204 ILE LEU 3J1Z_P MODEL Neutral none predicted - - 4.062e-06 rs1434061490 ENST00000374278 deleterious(0) benign(0.204) - Cation_efflux 1:26368272 1:26041781 3 2.17
link to download the report for this variant 208 208 VAL ILE 3J1Z_P MODEL Neutral none predicted - - 1.625e-05 rs372442248 ENST00000374278 tolerated(0.19) benign(0.003) - Cation_efflux 1:26368260 1:26041769 56 -1.7
link to download the report for this variant 210 210 SER PRO 3J1Z_P MODEL Damaging Buried Pro introduced; Buried H-bond breakage - - - rs759768447 ENST00000374278 deleterious(0) probably_damaging(0.996) - Cation_efflux 1:26368254 1:26041763 25 5.78
link to download the report for this variant 210 210 SER ALA 3J1Z_P MODEL Damaging Buried H-bond breakage - - - rs759768447 ENST00000374278 deleterious(0) probably_damaging(0.996) - Cation_efflux 1:26368254 1:26041763 25 5.78
link to download the report for this variant 211 211 ILE MET 3J1Z_P MODEL Neutral none predicted - - 2.031e-05 rs202003978 ENST00000374278 deleterious(0.01) benign(0.217) - Cation_efflux 1:26368249 1:26041758 18 3.89
link to download the report for this variant 220 220 ILE MET 3J1Z_P MODEL Neutral none predicted - - 4.062e-06 rs770233361 ENST00000374278 deleterious(0.01) possibly_damaging(0.809) - Cation_efflux 1:26368222 1:26041731 0 4.87
link to download the report for this variant 220 220 ILE THR 3J1Z_P MODEL Neutral none predicted - - 4.061e-06 rs773717920 ENST00000374278 tolerated(0.09) benign(0.417) - Cation_efflux 1:26368223 1:26041732 87 5.78
link to download the report for this variant 225 225 ILE THR 3J1Z_P MODEL Neutral none predicted - - - rs1156792842 ENST00000374278 tolerated(0.08) benign(0.021) - Cation_efflux 1:26368208 1:26041717 67 4.47
link to download the report for this variant 225 225 ILE MET 3J1Z_P MODEL Neutral none predicted - - 4.062e-06 rs781697562 ENST00000374278 deleterious(0.02) benign(0.062) - Cation_efflux 1:26368207 1:26041716 67 2.25
link to download the report for this variant 228 228 LEU MET 3J1Z_P MODEL Neutral none predicted - - 4.062e-06 rs768406992 ENST00000374278 deleterious(0) probably_damaging(0.995) - Cation_efflux 1:26368200 1:26041709 30 3.68
link to download the report for this variant 230 230 GLU LYS 3J1Z_P MODEL Neutral none predicted - - 4.063e-06 rs746722376 ENST00000374278 deleterious(0) possibly_damaging(0.787) - - 1:26368194 1:26041703 25 5.6
link to download the report for this variant 232 232 THR ILE 3J1Z_P MODEL Neutral none predicted - - 4.064e-06 rs1485948229 ENST00000374278 deleterious(0) benign(0.444) - - 1:26366399 1:26039908 30 5.48
link to download the report for this variant 233 233 PRO THR 3J1Z_P MODEL Neutral none predicted - - 4.064e-06 rs1208466104 ENST00000374278 deleterious(0.02) probably_damaging(0.999) - - 1:26366397 1:26039906 3 4.54
link to download the report for this variant 235 235 GLY VAL 3J1Z_P MODEL Neutral none predicted - - - - - deleterious(0) probably_damaging(0.979) - - - - - -
link to download the report for this variant 236 236 VAL ILE 3J1Z_P MODEL Neutral none predicted - - 3.251e-05 rs561828004 ENST00000374278 tolerated(0.33) benign(0.038) - - 1:26366388 1:26039897 42 0.19
link to download the report for this variant 237 237 ASP ASN 3J1Z_P MODEL Neutral none predicted - - 1.219e-05 rs755953666 ENST00000374278 tolerated(0.27) benign(0.02) - - 1:26366385 1:26039894 8 3.57
link to download the report for this variant 241 241 VAL ILE 3J1Z_P MODEL Neutral none predicted - - 8.126e-06 rs369345160 ENST00000374278 deleterious(0.03) possibly_damaging(0.669) - - 1:26366373 1:26039882 56 5.48
link to download the report for this variant 242 242 ARG HIS 3J1Z_P MODEL Neutral none predicted - - 0.0006053 rs149340896 ENST00000374278 deleterious(0) benign(0.06) - - 1:26366369 1:26039878 0 0.36
link to download the report for this variant 242 242 ARG CYS 3J1Z_P MODEL Neutral none predicted - - 4.063e-06 rs752464790 ENST00000374278 deleterious(0) possibly_damaging(0.849) - - 1:26366370 1:26039879 8 2.3
link to download the report for this variant 247 247 SER LEU 3J1Z_P MODEL Neutral none predicted - - 4.064e-06 rs1355400106 ENST00000374278 deleterious(0) possibly_damaging(0.639) - - 1:26366354 1:26039863 67 5.58
link to download the report for this variant 248 248 VAL LEU 3J1Z_P MODEL Neutral none predicted - - 8.127e-06 rs765476846 ENST00000374278 tolerated(0.08) benign(0.044) - - 1:26366352 1:26039861 3 4.66
link to download the report for this variant 250 250 GLY ARG 3J1Z_P MODEL Neutral none predicted - - 4.064e-05 rs151175941 ENST00000374278 deleterious(0) probably_damaging(0.99) - - 1:26366346 1:26039855 25 5.58
link to download the report for this variant 250 250 GLY TRP 3J1Z_P MODEL Neutral none predicted - - 4.064e-05 rs151175941 ENST00000374278 deleterious(0) probably_damaging(0.99) - - 1:26366346 1:26039855 25 5.58
link to download the report for this variant 251 251 VAL GLY 3J1Z_P MODEL Neutral none predicted - - - rs954913705 ENST00000374278 deleterious(0) probably_damaging(1) - - 1:26366342 1:26039851 0 4.46
link to download the report for this variant 251 251 VAL LEU 3J1Z_P MODEL Neutral none predicted - - 4.064e-06 rs761084393 ENST00000374278 deleterious(0) probably_damaging(0.992) - - 1:26366343 1:26039852 8 5.58
link to download the report for this variant 253 253 ALA ASP 3J1Z_P MODEL Neutral none predicted - - 6.097e-05 rs775726067 ENST00000374278 deleterious(0.04) benign(0.021) - - 1:26366336 1:26039845 30 4.66
link to download the report for this variant 260 260 TRP CYS 3J1Z_P MODEL Neutral none predicted - - 4.065e-06 rs1185652351 ENST00000374278 deleterious(0) probably_damaging(1) - - 1:26366314 1:26039823 30 5.58
link to download the report for this variant 261 261 ALA VAL 3J1Z_P MODEL Neutral none predicted - - 4.066e-06 rs773908149 ENST00000374278 deleterious(0) probably_damaging(0.969) - - 1:26366312 1:26039821 3 3.73
link to download the report for this variant 263 263 THR MET 3J1Z_P MODEL Neutral none predicted - - - rs1477109267 ENST00000374278 deleterious(0) probably_damaging(0.994) - - 1:26366306 1:26039815 76 4.54
link to download the report for this variant 268 268 VAL ILE 3J1Z_P MODEL Neutral none predicted - - 8.137e-06 rs756377175 ENST00000374278 tolerated(0.66) benign(0.02) - - 1:26366292 1:26039801 76 3.44
link to download the report for this variant 274 274 ALA THR 3J1Z_P MODEL Neutral none predicted - - 0.0 rs372456339 ENST00000374278 deleterious(0.02) possibly_damaging(0.459) - - 1:26366274 1:26039783 81 5.34
link to download the report for this variant 275 275 ILE THR 3J1Z_P MODEL Neutral none predicted - - 8.147e-06 rs1292030846 ENST00000374278 tolerated(0.33) benign(0.348) - - 1:26366270 1:26039779 81 4.19
link to download the report for this variant 281 281 ALA THR 3J1Z_P MODEL Neutral none predicted - - 7.778e-05 rs149723161 ENST00000374278 tolerated(0.21) benign(0.017) - - 1:26365782 1:26039291 70 3.79
link to download the report for this variant 284 284 VAL MET 3J1Z_P MODEL Neutral none predicted - - 8.168e-06 rs779238960 ENST00000374278 deleterious(0.01) probably_damaging(0.922) - - 1:26365773 1:26039282 42 5.63
link to download the report for this variant 286 286 LYS MET 3J1Z_P MODEL Neutral none predicted - - - - - deleterious(0.05) benign(0.1) - - - - - -
link to download the report for this variant 287 287 THR SER 3J1Z_P MODEL Neutral none predicted - - 4.078e-06 rs753914698 ENST00000374278 tolerated(0.06) benign(0.009) - - 1:26365764 1:26039273 42 1.35
link to download the report for this variant 287 287 THR ILE 3J1Z_P MODEL Neutral none predicted - - 4.078e-06 rs1281494136 ENST00000374278 deleterious(0.04) benign(0.015) - - 1:26365763 1:26039272 0 -5.19
link to download the report for this variant 289 289 SER ASN 3J1Z_P MODEL Neutral none predicted - - - rs1158602096 ENST00000374278 deleterious(0.03) benign(0.007) - - 1:26365757 1:26039266 36 2.73
link to download the report for this variant 290 290 SER ARG 3J1Z_P MODEL Neutral none predicted - - 4.074e-06 rs764331750 ENST00000374278 tolerated(0.68) benign(0.003) - - 1:26365755 1:26039264 36 -11.1
link to download the report for this variant 294 294 GLY GLU 3J1Z_P MODEL Neutral none predicted - - - - - tolerated(0.65) benign(0.004) - - - - - -
link to download the report for this variant 295 295 LYS ASN 3J1Z_P MODEL Neutral none predicted - - 4.068e-06 rs767902776 ENST00000374278 tolerated(0.15) benign(0.099) - - 1:26365738 1:26039247 60 3.72
link to download the report for this variant 297 297 HIS TYR 3J1Z_P MODEL Neutral none predicted - - 4.067e-06 rs1288268862 ENST00000374278 tolerated(0.91) benign(0) - - 1:26365734 1:26039243 13 1.21
link to download the report for this variant 297 297 HIS ASN 3J1Z_P MODEL Neutral none predicted - - 4.067e-06 rs1288268862 ENST00000374278 tolerated(0.91) benign(0) - - 1:26365734 1:26039243 13 1.21
link to download the report for this variant 297 297 HIS ASP 3J1Z_P MODEL Neutral none predicted - - 4.067e-06 rs1288268862 ENST00000374278 tolerated(0.91) benign(0) - - 1:26365734 1:26039243 13 1.21
link to download the report for this variant 300 300 THR ILE 3J1Z_P MODEL Neutral none predicted - - - rs1418181289 ENST00000374278 deleterious(0.02) benign(0.02) - - 1:26365724 1:26039233 56 4.69
link to download the report for this variant 301 301 VAL MET 3J1Z_P MODEL Neutral none predicted - - 6.913e-05 rs144832711 ENST00000374278 tolerated(0.63) benign(0.066) - - 1:26365722 1:26039231 56 2.11
link to download the report for this variant 303 303 ILE PHE 3J1Z_P MODEL Neutral none predicted - - 4.066e-06 rs1433795979 ENST00000374278 deleterious(0.01) possibly_damaging(0.737) - - 1:26365716 1:26039225 25 5.52
link to download the report for this variant 306 306 GLU LYS 3J1Z_P MODEL Neutral none predicted - - 4.066e-06 rs377192955 ENST00000374278 deleterious(0) probably_damaging(0.998) - - 1:26365707 1:26039216 42 5.52
link to download the report for this variant 309 309 SER LEU 3J1Z_P MODEL Neutral none predicted - - - rs1269431598 ENST00000374278 tolerated(0.08) benign(0.037) - - 1:26365697 1:26039206 70 1.27
link to download the report for this variant 312 312 MET ILE 3J1Z_P MODEL Neutral none predicted - - - rs1285635055 ENST00000374278 tolerated(0.12) benign(0.27) - - 1:26365687 1:26039196 82 4.61
link to download the report for this variant 312 312 MET LEU 3J1Z_P MODEL Neutral none predicted - - 4.064e-06 rs1185357133 ENST00000374278 tolerated(0.21) benign(0.115) - - 1:26365689 1:26039198 70 5.52
link to download the report for this variant 312 312 MET THR 3J1Z_P MODEL Neutral none predicted - - - - - deleterious(0.05) benign(0.356) - - - - - -





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version 1.5.4 22/11/22