No paralogue variants have been mapped to residue 3030 for RYR1.
RYR1 | KILLPLINQYFTNHCLYFLSTPAKVLGSGG>H<ASNKEKEMITSLFCKLAALVRHRVSLFGTD | 3060 |
RYR2 | KVVLPLIDQYFKNHRLYFLSAASRPLCSGG>H<ASNKEKEMVTSLFCKLGVLVRHRISLFGND | 3025 |
RYR3 | KVLLPLVDQYFTSHCLYFLSSPLKPLSSSG>Y<ASHKEKEMVAGLFCKLAALVRHRISLFGSD | 2921 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.H3030Q | c.9090C>A | Putative Benign | SIFT: Polyphen: |