No paralogue variants have been mapped to residue 382 for RYR2.
RYR2 | SEIKYGDSVCYIQHVDTGLWLTYQSVDVKS>V<RMGSIQRKAIMHHEGHMDDGISLSRSQHEE | 412 |
RYR1 | PEIKYGESLCFVQHVASGLWLTYAAPDPKA>L<RLGVLKKKAMLHQEGHMDDALSLTRCQQEE | 396 |
RYR3 | PEIKYGDSVCFVQHIASGLWVTYKAQDAKT>S<RLGPLKRKVILHQEGHMDDGLTLQRCQREE | 404 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.V382M | c.1144G>A | Putative Benign | rs370057029 | SIFT: tolerated Polyphen: possibly damaging |