No paralogue variants have been mapped to residue 2205 for RYR2.
RYR2 | MVNVLGGGESKEITFPKMVANCCRFLCYFC>R<ISRQNQKAMFDHLSYLLENSSVGLASPAMR | 2235 |
RYR1 | MVNVLGGGESKEIRFPKMVTSCCRFLCYFC>R<ISRQNQRSMFDHLSYLLENSGIG--L-GMQ | 2268 |
RYR3 | MVNVLGT-EKSQIAFPKMVASCCRFLCYFC>R<ISRQNQKAMFEHLSYLLENSSVGLASPSMR | 2132 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.R2205H | c.6614G>A | Putative Benign | rs370276573 | SIFT: deleterious Polyphen: probably damaging |