Paralogue Annotation for RYR2 residue 1500

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 1500
Reference Amino Acid: R - Arginine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 1500

No paralogue variants have been mapped to residue 1500 for RYR2.

RYR2	EKGKVHESIKRSNCYMVCAGESMSPGQ-G->R<NNNGLEIGCVVDAASGLLTFIANGKELSTY	1530
RYR1	EQGNVHSSLKCSNCYMVWGGDFVSPGQQGR>I<SHTDLVIGCLVDLATGLMTFTANGKESNTF	1538
RYR3	ERGRVHESVKRSNCYMVWGGDIVASSQRSN>R<SNVDLEIGCLVDLAMGMLSFSANGKELGTC	1434
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See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.R1500C	c.4498C>T	Putative Benign			SIFT: Polyphen:
p.R1500H	c.4499G>A	Putative Benign			SIFT: Polyphen: