No paralogue variants have been mapped to residue 2932 for RYR2.
RYR2 | AVSRGFKDLELDTPSIEKRFAYSFLQQLIR>Y<VDEAHQYILEFDGG-SRGKGEHFPYEQEIK | 2961 |
RYR1 | AVTRGLKDMELDSSSIEKRFAFGFLQQLLR>W<MDISQEFIAHLEAVVSSGRVEKSPHEQEIK | 2996 |
RYR3 | IVSRGMKDMELDASSMEKRFAYKFLKKILK>Y<VDSAQEFIAHLEAIVSSGKTEKSPRDQEIK | 2857 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.Y2932H | c.8794T>C | Cardiomyopathy | ARVD/C | SIFT: Polyphen: | |
Reports | Cardiomyopathy | ARVD/C | Prevalence and significance of rare RYR2 variants in arrhythmogenic right ventricular cardiomyopathy/dysplasia: results of a systematic screening. Heart Rhythm. 2014 11(11):1999-2009. doi: 10.1016/j.hrthm.2014.07.020 25041964 |