No paralogue variants have been mapped to residue 2084 for RYR1.
RYR1 | EEETTLGSRLMSLLEKVRLVKKKEEKPEEE>R<SAEESKPRSLQELVSHMVVRWAQEDFVQSP | 2114 |
RYR2 | NSDLTIRGRLLSLVEKVTYLKKKQA--EKP>V<ESDSKKSSTLQQLISETMVRWAQESVIEDP | 2078 |
RYR3 | EEDTSWTGKLCALVYKIKGPPKPEK--EQP>T<EEEERCPTTLKELISQTMICWAQEDQIQDS | 1976 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.R2084Q | c.6251G>A | Putative Benign | rs143681974 | SIFT: Polyphen: benign |