No paralogue variants have been mapped to residue 2083 for RYR1.
RYR1 | -EEETTLGSRLMSLLEKVRLVKKKEEKPEE>E<RSAEESKPRSLQELVSHMVVRWAQEDFVQS | 2113 |
RYR2 | GNSDLTIRGRLLSLVEKVTYLKKKQA--EK>P<VESDSKKSSTLQQLISETMVRWAQESVIED | 2077 |
RYR3 | -EEDTSWTGKLCALVYKIKGPPKPEK--EQ>P<TEEEERCPTTLKELISQTMICWAQEDQIQD | 1975 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.E2083V | c.6248A>T | Putative Benign | SIFT: Polyphen: |