No paralogue variants have been mapped to residue 3171 for RYR1.
RYR1 | TTLFQHIAQHQFGDDVILDDVQVSCYRTLC>S<IYSLGTTKNTYVEKLRPALGECLARLAAAM | 3201 |
RYR2 | SSLFEHIGQHQFGEDLILEDVQVSCYRILT>S<LYALGTSKSIYVERQRSALGECLAAFAGAF | 3166 |
RYR3 | TSIFEHVTQHQFGMDLLLGDVQISCYHILC>S<LYSLGTGKNIYVERQRPALGECLASLAAAI | 3062 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.S3171R | c.9511A>C | Putative Benign | rs370851939 | SIFT: deleterious Polyphen: benign |