No paralogue variants have been mapped to residue 385 for RYR2.
RYR2 | KYGDSVCYIQHVDTGLWLTYQSVDVKSVRM>G<SIQRKAIMHHEGHMDDGISLSRSQHEESRT | 415 |
RYR1 | KYGESLCFVQHVASGLWLTYAAPDPKALRL>G<VLKKKAMLHQEGHMDDALSLTRCQQEESQA | 399 |
RYR3 | KYGDSVCFVQHIASGLWVTYKAQDAKTSRL>G<PLKRKVILHQEGHMDDGLTLQRCQREESQA | 407 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.G385E | c.1154G>A | Putative Benign | rs373148638 | SIFT: deleterious Polyphen: probably damaging | |
p.G385A | c.1154G>C | Putative Benign | SIFT: Polyphen: |