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.

RYR2	FGPK-NDLEDYDADSDFEVLMKTAHGHLVP>D<RVDKDKEATKPEFNNHK-------------	1374
RYR1	QPPAEDEARAAEPDPDYENLRRSAGGWSEA>E<NGKEGTAKEGAPGGTPQAGGEAQPARAENE	1375
RYR3	------------------------------>-<------------------------------
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.D1357H	c.4069G>C	Putative Benign		rs193922626	SIFT: deleterious Polyphen: benign
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
p.D1357N	c.4069G>A	Putative Benign			SIFT: tolerated Polyphen: benign