Paralogue Annotation for RYR1 residue 4286

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 4286
Reference Amino Acid: A - Alanine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 4286

No paralogue variants have been mapped to residue 4286 for RYR1.

RYR1	EPETDEDEGAGAAEAGAEGAEEGAAGLEGT>A<ATAAAGATARVVAAAGRALRGLSYRSLRRR	4316
RYR2	NERSANKEESEK-----ERPEEQGPRMAFF>S<ILTVRSALFALRYNILTLMRMLSLKSLKKQ	4267
RYR3	ADRPEEEEEDEDSSYVLEIAGEEEEDGSLE>P<ASAFAMACASVKRNVTDFLKRATLKNLRKQ	4168
cons	> <

See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.A4286E	c.12857C>A	Putative Benign			SIFT: Polyphen: benign