No paralogue variants have been mapped to residue 3510 for RYR2.
RYR2 | ICAPGDQELIALAKNRFSLKDTEDEVRDII>R<SNIHLQGKLE-DPAIRWQMALYKDLPNRTD | 3539 |
RYR1 | MCAPTDQDLITLAKTRYALKDTDEEVREFL>H<NNLHLQGKVEGSPSLRWQMALYRGVPGREE | 3584 |
RYR3 | MCTPGDQELISLAKSRYSHRDTDEEVREHL>R<NNLHLQEKSD-DPAVKWQLNLYKDVLK-SE | 3439 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.R3510S | c.10528C>A | Putative Benign | rs201749277 | SIFT: deleterious Polyphen: benign | |
p.R3510C | c.10528C>T | Putative Benign | rs201749277 | SIFT: deleterious Polyphen: possibly damaging | |
p.R3510H | c.10529G>A | Putative Benign | rs375947003 | SIFT: tolerated Polyphen: possibly damaging |