Paralogue Annotation for RYR2 residue 1701

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 1701
Reference Amino Acid: G - Glycine
Protein Domain: Cytoplasmic region


Paralogue Variants mapped to RYR2 residue 1701

No paralogue variants have been mapped to residue 1701 for RYR2.



RYR2RVAHALCSHVDEPQLLYAIENKYMPGLLRA>G<YYDLLIDIHLSSYATARLMMNNEYIVPMTE1731
RYR1RVAHALCSHVDQAQLLHALEDAHLPGPLRA>G<YYDLLISIHLESACRSRRSMLSEYIVPLTP1739
RYR3RVAYALCSHVDLSQLFYAIDNKYLPGLLRS>G<FYDLLISIHLASAKERKLMMKNEYIIPITS1635
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.G1701Ac.5102G>C Putative BenignSIFT:
Polyphen:
ReportsUnknown 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