No paralogue variants have been mapped to residue 1478 for RYR2.
RYR2 | SDFHQYDTGFDLDRVRTVTVTLGDEKGKVH>E<SIKRSNCYMVCAGESMSPGQ-G-RNNNGLE | 1506 |
RYR1 | PDYHQHDMSFDLSKVRVVTVTMGDEQGNVH>S<SLKCSNCYMVWGGDFVSPGQQGRISHTDLV | 1514 |
RYR3 | PDYHLYSEKFDLNKNCTVTVTLGDERGRVH>E<SVKRSNCYMVWGGDIVASSQRSNRSNVDLE | 1410 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.E1478D | c.4434A>C | Putative Benign | SIFT: Polyphen: |