No paralogue variants have been mapped to residue 3508 for RYR2.
RYR2 | LNICAPGDQELIALAKNRFSLKDTEDEVRD>I<IRSNIHLQGKLE-DPAIRWQMALYKDLPNR | 3537 |
RYR1 | LNMCAPTDQDLITLAKTRYALKDTDEEVRE>F<LHNNLHLQGKVEGSPSLRWQMALYRGVPGR | 3582 |
RYR3 | LNMCTPGDQELISLAKSRYSHRDTDEEVRE>H<LRNNLHLQEKSD-DPAVKWQLNLYKDVLK- | 3437 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.I3508T | c.10523T>C | Putative Benign | rs115622575 | SIFT: deleterious Polyphen: benign | |
p.I3508V | c.10522A>G | Putative Benign | SIFT: Polyphen: |