Paralogue Annotation for RYR1 residue 4166

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 4166
Reference Amino Acid: A - Alanine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 4166

No paralogue variants have been mapped to residue 4166 for RYR1.

RYR1	RDIGFNVAVLLTNLSEHVPHDPRLHNFLEL>A<ESILEYFRPYLGRIEIMGASRRIERIYFEI	4196
RYR2	KDIGFNVAVLLTNLSEHMPNDTRLQTFLEL>A<ESVLNYFQPFLGRIEIMGSAKRIERVYFEI	4152
RYR3	KDIGFNVAVLLTNLSEHMPNDSRLKCLLDP>A<ESVLNYFEPYLGRIEIMGGAKKIERVYFEI	4048
cons	> <

See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.A4166T	c.12496G>A	Putative Benign			SIFT: Polyphen: