Paralogue Annotation for RYR1 residue 4293

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 4293
Reference Amino Acid: A - Alanine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 4293

No paralogue variants have been mapped to residue 4293 for RYR1.

RYR1	EGAGAAEAGAEGAEEGAAGLEGTAATAAAG>A<TARVVAAAGRALRGLSYRSLRRRVRRLRRL	4323
RYR2	EESEK-----ERPEEQGPRMAFFSILTVRS>A<LFALRYNILTLMRMLSLKSLKKQMKKVKKM	4274
RYR3	EEDEDSSYVLEIAGEEEEDGSLEPASAFAM>A<CASVKRNVTDFLKRATLKNLRKQYRNVKKM	4175
cons	> <

See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.A4293E	c.12878C>A	Putative Benign			SIFT: Polyphen: benign
p.A4293V	c.12878C>T	Putative Benign			SIFT: Polyphen: benign