Paralogue Annotation for RYR2 residue 1975

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 1975
Reference Amino Acid: M - Methionine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 1975

No paralogue variants have been mapped to residue 1975 for RYR2.

RYR2	NEVMQALNMSAALTARKTKEFRSPPQEQIN>M<LLNFKD--DKSECPCPEEIRDQLLDFHEDL	2003
RYR1	GLLIKAFSMTAAETARRTREFRSPPQEQIN>M<LLQFKDGTDEEDCPLPEEIRQDLLDFHQDL	2038
RYR3	NELMQALNMSAALTARKTKEFRSPPQEQIN>M<LLNFQL--GE-NCPCPEEIREELYDFHEDL	1903
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.M1975V	c.5923A>G	Putative Benign		rs200318013	SIFT: deleterious Polyphen: benign