Report


This variant from CYS to TRP occurring at position 306 of gene AIMP2 (UniProd Id Q13155 and Ensembl transcript Id ENST00000223029) and mapped on the PDB, PDB Id 5a5h_H, is predicted structurally Damaging by Missense3D [1] (structural features disrupted: Clash;  Buried H-bond breakage).

This variant has the following phenotypic annotations: ClinVar: -, Humsavar: -

This variant identified by the dbSNP Id rs368862792, has a minor allele frequency (MAF) of 4.102e-06 according to the gnomAD database. It occurs in a chromosome region, which has a percentile conservation score (CCR) of 27. Regions above the 95th percentile are considered constrained and less likely to tolerate variations [2]. The gene in which this variant occurs has a PLi score [3] of 0.0 and RVIS score [4] of 0.25 (61.0%)


References:
	1. J Mol Biol 2019 May 17;431(11):2197-2212. doi: 10.1016/j.jmb.2019.04.009
	2. Nat Genet 2019 Jan;51(1):88-95. doi: 10.1038/s41588-018-0294-6
	3. Nucleic Acids Res 2017 Jan 4;45(D1):D840-D845. doi: 10.1093/nar/gkw971
	4. PLoS Genet 2013;9(8):e1003709. doi: 10.1371/journal.pgen.1003709.


Structural features explanation:
	Clash: The mutant structure has a MolProbity clash score > 30 and the increase in clash score is > 18 compared to the wild type. 
	Buried H-bond breakage: The substitution breaks all side-chain / side-chain H-bond(s) and/or side-chain / main-chain H-bond(s) formed by the wild type which was buried. The maximum H-bond N-O length is 3.9 angstrom.