No paralogue variants have been mapped to residue 1318 for RYR2.
RYR2 | KSFGSQNSNTDIMFYRLSMPIECAEVFSKT>V<-AGGLPGAGLFGPK-NDLEDYDADSDFEVL | 1346 |
RYR1 | RTWGSQNSLVEMLFLRLSLPVQFHQHFRCT>A<GATPLAPPGLQPPAEDEARAAEPDPDYENL | 1334 |
RYR3 | KTFGTQNSNADMIYCRLSMPVECHSSFSH->-<------------------------------ | 1302 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.V1318E | c.3953T>A | Putative Benign | SIFT: tolerated Polyphen: benign |