No paralogue variants have been mapped to residue 2570 for RYR1.
RYR1 | TFSTTEMALALNRYLCLAVLPLITKCAPLF>A<GTEHRAIMVDSMLHTVYRLSRGRSLTKAQR | 2600 |
RYR2 | ALSATDMALALNRYLCTAVLPLLTRCAPLF>A<GTEHHASLIDSLLHTVYRLSKGCSLTKAQR | 2566 |
RYR3 | SLSTTEAALALNRYICSAVLPLLTRCAPLF>A<GTEHCTSLIDSTLQTIYRLSKGRSLTKAQR | 2463 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.A2570V | c.7709C>T | Putative Benign | SIFT: Polyphen: | ||
p.A2570E | c.7709C>A | Other Myopathy | SIFT: Polyphen: | ||
Reports | Other Myopathy | A comprehensive genetic diagnosis of Chinese muscular dystrophy and congenital myopathy patients by targeted next-generation sequencing. Neuromuscul Disord. 2015 25(8):617-24. doi: 10.1016/j.nmd.2015.03.002. 25987458 |