No paralogue variants have been mapped to residue 3005 for RYR1.
RYR1 | AHLEAVVSSGRVEKSPHEQEIKFFAKILLP>L<INQYFTNHCLYFLSTPAKVLGSGGHASNKE | 3035 |
RYR2 | LEFDGG-SRGKGEHFPYEQEIKFFAKVVLP>L<IDQYFKNHRLYFLSAASRPLCSGGHASNKE | 3000 |
RYR3 | AHLEAIVSSGKTEKSPRDQEIKFFAKVLLP>L<VDQYFTSHCLYFLSSPLKPLSSSGYASHKE | 2896 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.L3005S | c.9014T>C | Putative Benign | rs367612143 | SIFT: deleterious Polyphen: benign |