Paralogue Annotation for RYR2 residue 1357

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 1357
Reference Amino Acid: D - Aspartate
Protein Domain: Cytoplasmic region


Paralogue Variants mapped to RYR2 residue 1357

No paralogue variants have been mapped to residue 1357 for RYR2.



RYR2FGPK-NDLEDYDADSDFEVLMKTAHGHLVP>D<RVDKDKEATKPEFNNHK-------------1374
RYR1QPPAEDEARAAEPDPDYENLRRSAGGWSEA>E<NGKEGTAKEGAPGGTPQAGGEAQPARAENE1375
RYR3------------------------------>-<------------------------------
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.D1357Hc.4069G>C Putative BenignSIFT: deleterious
Polyphen: benign
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
p.D1357Nc.4069G>A Putative BenignSIFT: tolerated
Polyphen: benign