No paralogue variants have been mapped to residue 118 for RYR2.
RYR2 | KSEGQVDVEKWKFMMKTAQGGGHRTLLYGH>A<ILLRHSYSGMYLCCLSTSRSSTDKLAFDVG | 148 |
RYR1 | AG--V---E-------SSQGGGHRTLLYGH>A<ILLRHAHSRMYLSCLTTSRSMTDKLAFDVG | 135 |
RYR3 | NG-GE---G-------AAQGGGHRTLLYGH>A<VLLRHSFSGMYLTCLTTSRSQTDKLAFDVG | 138 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.A118V | c.353C>T | Putative Benign | SIFT: deleterious Polyphen: benign |