Paralogue Annotation for RYR2 residue 4086

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 4086
Reference Amino Acid: R - Arginine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 4086

No paralogue variants have been mapped to residue 4086 for RYR2.

RYR2	KHYTQSETEFLLSCAETDENETLDYEEFVK>R<FHEPAKDIGFNVAVLLTNLSEHMPNDTRLQ	4116
RYR1	KQFSGPEIQFLLSCSEADENEMINCEEFAN>R<FQEPARDIGFNVAVLLTNLSEHVPHDPRLH	4160
RYR3	KQYTQSEIDFLLSCAEADENDMFNYVDFVD>R<FHEPAKDIGFNVAVLLTNLSEHMPNDSRLK	4012
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See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.R4086H	c.12257G>A	Putative Benign			SIFT: Polyphen: