No paralogue variants have been mapped to residue 3604 for RYR2.
RYR2 | L-VEHPQRSKKAVWHKLLSKQRKRAVVACF>R<MAPLYNLPRHRAVNLFLQGYEKSWIETEEH | 3634 |
RYR1 | DQTEHPYKSKKAVWHKLLSKQRRRAVVACF>R<MTPLYNLPTHRACNMFLESYKAAWILTEDH | 3667 |
RYR3 | EQVEQPLRSKKAVWHKLLSKQRKRAVVACF>R<MAPLYNLPRHRSINLFLHGYQRFWIETEEY | 3522 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.R3604L | c.10811G>T | Putative Benign | rs56228594 | SIFT: deleterious Polyphen: probably damaging |