No paralogue variants have been mapped to residue 2758 for RYR2.
RYR2 | SHDKWSMDKLANGWIYGEIYSDSSKVQPLM>K<PYKLLSEKEKEIYRWPIKESLKTMLAWGWR | 2788 |
RYR1 | THEKWAFDKIQNNWSYGENIDEELKTHPML>R<PYKTFSEKDKEIYRWPIKESLKAMIAWEWT | 2822 |
RYR3 | SHDKWACDKSQSGWKYGISLDENVKTHPLI>R<PFKTLTEKEKEIYRWPARESLKTMLAVGWT | 2685 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.K2758R | c.8273A>G | Putative Benign | rs200053476 | SIFT: tolerated Polyphen: benign | |
p.K2758N | c.8274G>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 |