No paralogue variants have been mapped to residue 2985 for RYR1.
RYR1 | FAFGFLQQLLRWMDISQEFIAHLEAVVSSG>R<VEKSPHEQEIKFFAKILLPLINQYFTNHCL | 3015 |
RYR2 | FAYSFLQQLIRYVDEAHQYILEFDGG-SRG>K<GEHFPYEQEIKFFAKVVLPLIDQYFKNHRL | 2980 |
RYR3 | FAYKFLKKILKYVDSAQEFIAHLEAIVSSG>K<TEKSPRDQEIKFFAKVLLPLVDQYFTSHCL | 2876 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.R2985Q | c.8954G>A | Putative Benign | SIFT: Polyphen: |