Paralogue Annotation for RYR1 residue 4263

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 4263
Reference Amino Acid: E - Glutamate
Protein Domain:

Paralogue Variants mapped to RYR1 residue 4263

No paralogue variants have been mapped to residue 4263 for RYR1.

RYR1	FVSFCEDTIFEMQIAAQISEPEGEPETDED>E<GAGAAEAGAEGAEEGAAGLEGTAATAAAGA	4293
RYR2	FVNFCEDTIFEMQLAAQISESDLNERSANK>E<ESEK-----ERPEEQGPRMAFFSILTVRSA	4244
RYR3	FVNFCEDTIFEMQLASQISESDSADRPEEE>E<EDEDSSYVLEIAGEEEEDGSLEPASAFAMA	4145
cons	> <

See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.E4263V	c.12788A>T	Benign			SIFT: Polyphen: