No paralogue variants have been mapped to residue 847 for RYR2.
RYR2 | PGYAPCYEAVLPKEKLKVEHSREYKQERTY>T<RDLLGPTVSLTQAAFTPIPVDTSQIVLPPH | 877 |
RYR1 | PGYAPCHEAVLPRERLHLEPIKEYRREGPR>G<PHLVGPSRCLSHTDFVPCPVDTVQIVLPPH | 865 |
RYR3 | SGYAPCYEALLPKEKMRLEPVKEYKRDADG>I<RDLLGTTQFLSQASFIPCPVDTSQVILPPH | 864 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.T847A | c.2539A>G | Unknown | SIFT: Polyphen: | ||
Reports | Unknown | Novel genotype-phenotype associations demonstrated by high-throughput sequencing in patients with hypertrophic cardiomyopathy. Heart. 2015 101(4):294-301. doi: 10.1136/heartjnl-2014-306387. 25351510 |