No paralogue variants have been mapped to residue 2719 for RYR1.
RYR1 | KKYDPELYRMAMPCLCAIAGALPPDYVDAS>Y<SSKAEKKATVDAEGNFDPRPVETLNVIIPE | 2749 |
RYR2 | KKYEQELFKLALPCLSAVAGALPPDYMESN>Y<VSMMEKQSSMDSEGNFNPQPVDTSNITIPE | 2715 |
RYR3 | KKYDPDLFRMALPCLSAIAGALPPDYLDTR>I<TATLEKQISVDADGNFDPKPINTMNFSLPE | 2612 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.Y2719H | c.8155T>C | Putative Benign | rs200920798 | SIFT: Polyphen: benign |