No paralogue variants have been mapped to residue 1701 for RYR2.
RYR2 | RVAHALCSHVDEPQLLYAIENKYMPGLLRA>G<YYDLLIDIHLSSYATARLMMNNEYIVPMTE | 1731 |
RYR1 | RVAHALCSHVDQAQLLHALEDAHLPGPLRA>G<YYDLLISIHLESACRSRRSMLSEYIVPLTP | 1739 |
RYR3 | RVAYALCSHVDLSQLFYAIDNKYLPGLLRS>G<FYDLLISIHLASAKERKLMMKNEYIIPITS | 1635 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.G1701A | c.5102G>C | Putative Benign | 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 |