No paralogue variants have been mapped to residue 520 for RYR2.
RYR2 | QEEGMINLVLECIDRLHVYSSAAHFADVAG>R<EAGESWKSILNSLYELLAALIRGNRKNCAQ | 550 |
RYR1 | QEEGMLSMVLNCIDRLNVYTTAAHFAEFAG>E<EAAESWKEIVNLLYELLASLIRGNRSNCAL | 538 |
RYR3 | KEEGMLALVLNCIDRLNVYNSVAHFAGIAR>E<ESGMAWKEILNLLYKLLAALIRGNRNNCAQ | 537 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.R520Q | c.1559G>A | Putative Benign | SIFT: tolerated Polyphen: benign | ||
p.R520L | c.1559G>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 |