No paralogue variants have been mapped to residue 2717 for RYR1.
RYR1 | AHKKYDPELYRMAMPCLCAIAGALPPDYVD>A<SYSSKAEKKATVDAEGNFDPRPVETLNVII | 2747 |
RYR2 | SQKKYEQELFKLALPCLSAVAGALPPDYME>S<NYVSMMEKQSSMDSEGNFNPQPVDTSNITI | 2713 |
RYR3 | SHKKYDPDLFRMALPCLSAIAGALPPDYLD>T<RITATLEKQISVDADGNFDPKPINTMNFSL | 2610 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.A2717V | c.8150C>T | Putative Benign | SIFT: Polyphen: |