Paralogue Annotation for RYR2 residue 1482

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 1482
Reference Amino Acid: R - Arginine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 1482

No paralogue variants have been mapped to residue 1482 for RYR2.

RYR2	QYDTGFDLDRVRTVTVTLGDEKGKVHESIK>R<SNCYMVCAGESMSPGQ-G-RNNNGLEIGCV	1510
RYR1	QHDMSFDLSKVRVVTVTMGDEQGNVHSSLK>C<SNCYMVWGGDFVSPGQQGRISHTDLVIGCL	1518
RYR3	LYSEKFDLNKNCTVTVTLGDERGRVHESVK>R<SNCYMVWGGDIVASSQRSNRSNVDLEIGCL	1414
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.R1482H	c.4445G>A	Putative Benign		rs373024059	SIFT: tolerated Polyphen: benign
p.R1482C	c.4444C>T	Putative Benign			SIFT: tolerated Polyphen: probably damaging