Paralogue Annotation for RYR2 residue 1498

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 1498
Reference Amino Acid: Q - Glutamine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 1498

No paralogue variants have been mapped to residue 1498 for RYR2.

RYR2	TLGDEKGKVHESIKRSNCYMVCAGESMSPG>Q<-G-RNNNGLEIGCVVDAASGLLTFIANGKE	1526
RYR1	TMGDEQGNVHSSLKCSNCYMVWGGDFVSPG>Q<QGRISHTDLVIGCLVDLATGLMTFTANGKE	1534
RYR3	TLGDERGRVHESVKRSNCYMVWGGDIVASS>Q<RSNRSNVDLEIGCLVDLAMGMLSFSANGKE	1430
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See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.Q1498E	c.4492C>G	Putative Benign			SIFT: Polyphen: