Paralogue Annotation for RYR1 residue 4267

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 4267
Reference Amino Acid: A - Alanine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 4267

No paralogue variants have been mapped to residue 4267 for RYR1.

RYR1	CEDTIFEMQIAAQISEPEGEPETDEDEGAG>A<AEAGAEGAEEGAAGLEGTAATAAAGATARV	4297
RYR2	CEDTIFEMQLAAQISESDLNERSANKEESE>K<-----ERPEEQGPRMAFFSILTVRSALFAL	4248
RYR3	CEDTIFEMQLASQISESDSADRPEEEEEDE>D<SSYVLEIAGEEEEDGSLEPASAFAMACASV	4149
cons	> <

See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.A4267E	c.12800C>A	Putative Benign		rs201315104	SIFT: Polyphen: