No paralogue variants have been mapped to residue 3506 for RYR2.
RYR2 | IGLNICAPGDQELIALAKNRFSLKDTEDEV>R<DIIRSNIHLQGKLE-DPAIRWQMALYKDLP | 3535 |
RYR1 | IGLNMCAPTDQDLITLAKTRYALKDTDEEV>R<EFLHNNLHLQGKVEGSPSLRWQMALYRGVP | 3580 |
RYR3 | IGLNMCTPGDQELISLAKSRYSHRDTDEEV>R<EHLRNNLHLQEKSD-DPAVKWQLNLYKDVL | 3436 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.R3506Q | c.10517G>A | Putative Benign | SIFT: Polyphen: |