No paralogue variants have been mapped to residue 3187 for RYR2.
RYR2 | ECLAAFAGAFPVAFLETHLDKHNIYSIYNT>K<SSRERAALSLPTNVEDVCPNIPSLEKLMEE | 3217 |
RYR1 | ECLARLAAAMPVAFLEPQLNEYNACSVYTT>K<SPRERAILGLPNSVEEMCPDIPVLERLMAD | 3252 |
RYR3 | ECLASLAAAIPVAFLEPTLNRYNPLSVFNT>K<TPRERSILGMPDTVEDMCPDIPQLEGLMKE | 3113 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.K3187R | c.9560A>G | Benign | rs184218219 | SIFT: tolerated Polyphen: probably damaging | |
Reports | Benign | The landscape of genetic variation in dilated cardiomyopathy as surveyed by clinical DNA sequencing. Genet Med 2014 Aug;16(8):601-8. 24503780 | |||
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 |