Paralogue Annotation for RYR2 residue 1993

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 1993
Reference Amino Acid: R - Arginine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 1993

No paralogue variants have been mapped to residue 1993 for RYR2.

RYR2	FRSPPQEQINMLLNFKD--DKSECPCPEEI>R<DQLLDFHEDLMTHCGIELDEDG-SLDGNSD	2022
RYR1	FRSPPQEQINMLLQFKDGTDEEDCPLPEEI>R<QDLLDFHQDLLAHCGIQLDGEEEEP--EEE	2056
RYR3	FRSPPQEQINMLLNFQL--GE-NCPCPEEI>R<EELYDFHEDLLLHCGVPLEEEE-EE--EED	1920
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.R1993H	c.5978G>A	Putative Benign			SIFT: deleterious Polyphen: benign
p.R1993C	c.5977C>T	Putative Benign			SIFT: Polyphen: