No paralogue variants have been mapped to residue 3152 for RYR2.
RYR2 | ILEDVQVSCYRILTSLYALGTSKSIYVERQ>R<SALGECLAAFAGAFPVAFLETHLDKHNIYS | 3182 |
RYR1 | ILDDVQVSCYRTLCSIYSLGTTKNTYVEKL>R<PALGECLARLAAAMPVAFLEPQLNEYNACS | 3217 |
RYR3 | LLGDVQISCYHILCSLYSLGTGKNIYVERQ>R<PALGECLASLAAAIPVAFLEPTLNRYNPLS | 3078 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.R3152C | c.9454C>T | Putative Benign | rs181105904 | SIFT: deleterious Polyphen: probably damaging | |
p.R3152L | c.9455G>T | 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 |