No paralogue variants have been mapped to residue 388 for RYR2.
RYR2 | DSVCYIQHVDTGLWLTYQSVDVKSVRMGSI>Q<RKAIMHHEGHMDDGISLSRSQHEESRTARV | 418 |
RYR1 | ESLCFVQHVASGLWLTYAAPDPKALRLGVL>K<KKAMLHQEGHMDDALSLTRCQQEESQAARM | 402 |
RYR3 | DSVCFVQHIASGLWVTYKAQDAKTSRLGPL>K<RKVILHQEGHMDDGLTLQRCQREESQAARI | 410 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.Q388K | c.1162C>A | Putative Benign | SIFT: Polyphen: | ||
p.Q388R | c.1163A>G | Putative Benign | SIFT: Polyphen: |