No paralogue variants have been mapped to residue 480 for RYR1.
RYR1 | YFEPPSEDLQHEEKQSKLRSLRNRQSLFQE>E<GMLSMVLNCIDRLNVYTTAAHFAEFAGEEA | 510 |
RYR2 | YFHPPDEHLEHEDKQNRLRALKNRQNLFQE>E<GMINLVLECIDRLHVYSSAAHFADVAGREA | 522 |
RYR3 | YFQPPEEEMRHEDKQNKLRSLKNRQNLFKE>E<GMLALVLNCIDRLNVYNSVAHFAGIAREES | 509 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.Glu480Lys | c.1438G>A | Unknown | SIFT: Polyphen: |