No paralogue variants have been mapped to residue 2687 for RYR2.
RYR2 | YEQELFKLALPCLSAVAGALPPDYMESNYV>S<MMEKQSSMDSEGNFNPQPVDTSNITIPEKL | 2717 |
RYR1 | YDPELYRMAMPCLCAIAGALPPDYVDASYS>S<KAEKKATVDAEGNFDPRPVETLNVIIPEKL | 2751 |
RYR3 | YDPDLFRMALPCLSAIAGALPPDYLDTRIT>A<TLEKQISVDADGNFDPKPINTMNFSLPEKL | 2614 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.S2687N | c.8060G>A | Putative Benign | rs202020477 | SIFT: tolerated Polyphen: benign |