No paralogue variants have been mapped to residue 1489 for RYR1.
RYR1 | HDMSFDLSKVRVVTVTMGDEQGNVHSSLKC>S<NCYMVWGGDFVSPGQQGRISHTDLVIGCLV | 1519 |
RYR2 | YDTGFDLDRVRTVTVTLGDEKGKVHESIKR>S<NCYMVCAGESMSPGQ-G-RNNNGLEIGCVV | 1511 |
RYR3 | YSEKFDLNKNCTVTVTLGDERGRVHESVKR>S<NCYMVWGGDIVASSQRSNRSNVDLEIGCLV | 1415 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.S1489N | c.4466G>A | Putative Benign | rs34404839 | SIFT: Polyphen: probably damaging |