Paralogue Annotation for RYR2 residue 943

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 943
Reference Amino Acid: L - Leucine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 943

No paralogue variants have been mapped to residue 943 for RYR2.

RYR2	RQHPCLVEFSKLPEQERNYNLQMSLETLKT>L<LALGCHVGISDEHAEDKVKKMKLPKNYQLT	973
RYR1	RLHPCLVDFHSLPEPERNYNLQMSGETLKT>L<LALGCHVGMADEKAEDNLKKTKLPKTYMMS	961
RYR3	RQHPCLVEFSKLPETEKNYNLQMSTETLKT>L<LALGCHIAHVNPAAEEDLKKVKLPKNYMMS	960
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.L943S	c.2828T>C	Putative Benign		rs373665895	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