No paralogue variants have been mapped to residue 2997 for RYR1.
RYR1 | MDISQEFIAHLEAVVSSGRVEKSPHEQEIK>F<FAKILLPLINQYFTNHCLYFLSTPAKVLGS | 3027 |
RYR2 | VDEAHQYILEFDGG-SRGKGEHFPYEQEIK>F<FAKVVLPLIDQYFKNHRLYFLSAASRPLCS | 2992 |
RYR3 | VDSAQEFIAHLEAIVSSGKTEKSPRDQEIK>F<FAKVLLPLVDQYFTSHCLYFLSSPLKPLSS | 2888 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.F2997L | c.8991C>A | Putative Benign | SIFT: deleterious Polyphen: benign |