No paralogue variants have been mapped to residue 1119 for RYR2.
RYR2 | RAEKTYAVKAGRWYFEFETVTAGDMRVGWS>R<PGCQPDQELGSDERAFAFDGFKAQRWHQGN | 1149 |
RYR1 | RAEKSYTVQSGRWYFEFEAVTTGEMRVGWA>R<PELRPDVELGADELAYVFNGHRGQRWHLGS | 1135 |
RYR3 | RVERSYAVRSGKWYFEFEVVTGGDMRVGWA>R<PGCRPDVELGADDQAFVFEGNRGQRWHQGS | 1135 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.R1119H | c.3356G>A | Putative Benign | rs201312753 | SIFT: deleterious Polyphen: probably damaging | |
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 |