Paralogue Annotation for RYR2 residue 2931

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 2931
Reference Amino Acid: R - Arginine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 2931

No paralogue variants have been mapped to residue 2931 for RYR2.

RYR2	YAVSRGFKDLELDTPSIEKRFAYSFLQQLI>R<YVDEAHQYILEFDGG-SRGKGEHFPYEQEI	2960
RYR1	YAVTRGLKDMELDSSSIEKRFAFGFLQQLL>R<WMDISQEFIAHLEAVVSSGRVEKSPHEQEI	2995
RYR3	IIVSRGMKDMELDASSMEKRFAYKFLKKIL>K<YVDSAQEFIAHLEAIVSSGKTEKSPRDQEI	2856
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.R2931C	c.8791C>T	Putative Benign			SIFT: Polyphen: