Paralogue Annotation for RYR1 residue 2008

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 2008
Reference Amino Acid: M - Methionine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 2008

No paralogue variants have been mapped to residue 2008 for RYR1.

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

See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.M2008T	c.6023T>C	Putative Benign		rs199947661	SIFT: Polyphen: benign