No paralogue variants have been mapped to residue 3190 for RYR2.
RYR2 | AAFAGAFPVAFLETHLDKHNIYSIYNTKSS>R<ERAALSLPTNVEDVCPNIPSLEKLMEEIVE | 3220 |
RYR1 | ARLAAAMPVAFLEPQLNEYNACSVYTTKSP>R<ERAILGLPNSVEEMCPDIPVLERLMADIGG | 3255 |
RYR3 | ASLAAAIPVAFLEPTLNRYNPLSVFNTKTP>R<ERSILGMPDTVEDMCPDIPQLEGLMKEIND | 3116 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.R3190Q | c.9569G>A | Putative Benign | rs369276868 | SIFT: tolerated Polyphen: benign | |
Reports | Unknown | Novel genotype-phenotype associations demonstrated by high-throughput sequencing in patients with hypertrophic cardiomyopathy. Heart. 2015 101(4):294-301. doi: 10.1136/heartjnl-2014-306387. 25351510 |