Paralogue Annotation for RYR1 residue 4167

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 4167
Reference Amino Acid: E - Glutamate
Protein Domain:

Paralogue Variants mapped to RYR1 residue 4167

No paralogue variants have been mapped to residue 4167 for RYR1.

RYR1	DIGFNVAVLLTNLSEHVPHDPRLHNFLELA>E<SILEYFRPYLGRIEIMGASRRIERIYFEIS	4197
RYR2	DIGFNVAVLLTNLSEHMPNDTRLQTFLELA>E<SVLNYFQPFLGRIEIMGSAKRIERVYFEIS	4153
RYR3	DIGFNVAVLLTNLSEHMPNDSRLKCLLDPA>E<SVLNYFEPYLGRIEIMGGAKKIERVYFEIS	4049
cons	> <

See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.E4167A	c.12500A>C	Putative Benign			SIFT: Polyphen: