No paralogue variants have been mapped to residue 1341 for RYR2.
RYR2 | VFSKTV-AGGLPGAGLFGPK-NDLEDYDAD>S<DFEVLMKTAHGHLVPDRVDKDKEATKPEFN | 1371 |
RYR1 | HFRCTAGATPLAPPGLQPPAEDEARAAEPD>P<DYENLRRSAGGWSEAENGKEGTAKEGAPGG | 1359 |
RYR3 | SFSH-------------------------->-<------------------------------ | 1302 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.S1341F | c.4022C>T | Putative Benign | rs372397140 | SIFT: deleterious Polyphen: benign |