Paralogue Annotation for RYR1 residue 2047

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 2047
Reference Amino Acid: D - Aspartate
Protein Domain:

Paralogue Variants mapped to RYR1 residue 2047

No paralogue variants have been mapped to residue 2047 for RYR1.

RYR1	DEEDCPLPEEIRQDLLDFHQDLLAHCGIQL>D<GEEEEP--EEETTLGSRLMSLLEKVRLVKK	2075
RYR2	DKSECPCPEEIRDQLLDFHEDLMTHCGIEL>D<EDG-SLDGNSDLTIRGRLLSLVEKVTYLKK	2041
RYR3	GE-NCPCPEEIREELYDFHEDLLLHCGVPL>E<EEE-EE--EEDTSWTGKLCALVYKIKGPPK	1939
cons	> <

See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.D2047H	c.6139G>C	Putative Benign			SIFT: Polyphen: