No paralogue variants have been mapped to residue 2952 for RYR1.
RYR1 | KAQELLKFLQMNGYAVTRGLKDMELDSSSI>E<KRFAFGFLQQLLRWMDISQEFIAHLEAVVS | 2982 |
RYR2 | KAQDILKFLQINGYAVSRGFKDLELDTPSI>E<KRFAYSFLQQLIRYVDEAHQYILEFDGG-S | 2947 |
RYR3 | KAQDLFKFLQVNGIIVSRGMKDMELDASSM>E<KRFAYKFLKKILKYVDSAQEFIAHLEAIVS | 2843 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.E2952V | c.8855A>T | Putative Benign | SIFT: deleterious Polyphen: benign |