No paralogue variants have been mapped to residue 393 for RYR2.
RYR2 | IQHVDTGLWLTYQSVDVKSVRMGSIQRKAI>M<HHEGHMDDGISLSRSQHEESRTARVIRSTV | 423 |
RYR1 | VQHVASGLWLTYAAPDPKALRLGVLKKKAM>L<HQEGHMDDALSLTRCQQEESQAARMIHSTN | 407 |
RYR3 | VQHIASGLWVTYKAQDAKTSRLGPLKRKVI>L<HQEGHMDDGLTLQRCQREESQAARIIRNTT | 415 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.M393I | c.1179G>T | Putative Benign | rs80313920 | SIFT: tolerated Polyphen: possibly damaging | |
p.Met393Arg | c.1178T>G | Unknown | SIFT: Polyphen: |