Paralogue Annotation for RYR2 residue 3943

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 3943
Reference Amino Acid: A - Alanine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 3943

No paralogue variants have been mapped to residue 3943 for RYR2.

RYR2	AKQVFNTLTEYIQGPCTGNQQSLAHSRLWD>A<VVGFLHVFAHMQMKLSQDSSQIELLKELMD	3973
RYR1	AKQVFNSLTEYIQGPCTGNQQSLAHSRLWD>A<VVGFLHVFAHMMMKLAQDSSQIELLKELLD	4017
RYR3	TKQIFNSLTEYIQGPCIGNQQSLAHSRLWD>A<VVGFLHVFANMQMKLSQDSSQIELLKELLD	3869
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See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.A3943T	c.11827G>A	Other Cardiac Phenotype			SIFT: Polyphen:
Reports		Other Cardiac Phenotype		Cardiac channelopathy testing in 274 ethnically diverse sudden unexplained deaths. Forensic Sci Int. 2014 237:90-9. doi: 10.1016/j.forsciint.2014.01.014. 24631775