No paralogue variants have been mapped to residue 2962 for RYR2.
RYR2 | VDEAHQYILEFDGG-SRGKGEHFPYEQEIK>F<FAKVVLPLIDQYFKNHRLYFLSAASRPLCS | 2992 |
RYR1 | MDISQEFIAHLEAVVSSGRVEKSPHEQEIK>F<FAKILLPLINQYFTNHCLYFLSTPAKVLGS | 3027 |
RYR3 | VDSAQEFIAHLEAIVSSGKTEKSPRDQEIK>F<FAKVLLPLVDQYFTSHCLYFLSSPLKPLSS | 2888 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.F2962L | c.8886C>A | Putative Benign | rs372703473 | SIFT: deleterious Polyphen: possibly damaging |