No paralogue variants have been mapped to residue 1756 for RYR2.
RYR2 | ETKSITLFPD------ENKKHGLPGIGLST>S<LRPRMQFSSPSFVSI------SNECYQYSP | 1780 |
RYR1 | ETRAITLFPPGRSTENGHPRHGLPGVGVTT>S<LRPPHHFSPPCFVAALPAAGAAEAPARLSP | 1800 |
RYR3 | TTRNIRLFPD------ESKRHGLPGVGLRT>C<LKPGFRFSTPCFVVT------GEDHQKQSP | 1684 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.S1756A | c.5266T>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 |