No paralogue variants have been mapped to residue 3160 for RYR1.
RYR1 | TYTTVALLPVLTTLFQHIAQHQFGDDVILD>D<VQVSCYRTLCSIYSLGTTKNTYVEKLRPAL | 3190 |
RYR2 | NYTTVALLPMLSSLFEHIGQHQFGEDLILE>D<VQVSCYRILTSLYALGTSKSIYVERQRSAL | 3155 |
RYR3 | NYTTVALLPILTSIFEHVTQHQFGMDLLLG>D<VQISCYHILCSLYSLGTGKNIYVERQRPAL | 3051 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.D3160N | c.9478G>A | Putative Benign | rs377561682 | SIFT: tolerated Polyphen: benign |