Paralogue Annotation for RYR2 residue 979

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 979
Reference Amino Acid: A - Alanine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 979

No paralogue variants have been mapped to residue 979 for RYR2.

RYR2	HVGISDEHAEDKVKKMKLPKNYQLTSGYKP>A<PMDLSFIKLTPSQEAMVDKLAENAHNVWAR	1009
RYR1	HVGMADEKAEDNLKKTKLPKTYMMSNGYKP>A<PLDLSHVRLTPAQTTLVDRLAENGHNVWAR	997
RYR3	HIAHVNPAAEEDLKKVKLPKNYMMSNGYKP>A<PLDLSDVKLLPPQEILVDKLAENAHNVWAK	996
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.A979S	c.2935G>T	Putative Benign		rs202015519	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