No paralogue variants have been mapped to residue 1337 for RYR1.
RYR1 | TPLAPPGLQPPAEDEARAAEPDPDYENLRR>S<AGGWSEAENGKEGTAKEGAPGGTPQAGGEA | 1367 |
RYR2 | GGLPGAGLFGPK-NDLEDYDADSDFEVLMK>T<AHGHLVPDRVDKDKEATKPEFNNHK----- | 1374 |
RYR3 | ------------------------------>-<------------------------------ | |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.S1337L | c.4010C>T | Putative Benign | rs376532452 | SIFT: deleterious Polyphen: possibly damaging |