Paralogue Annotation for RYR1 residue 4283

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 4283
Reference Amino Acid: E - Glutamate
Protein Domain:

Paralogue Variants mapped to RYR1 residue 4283

No paralogue variants have been mapped to residue 4283 for RYR1.

RYR1	PEGEPETDEDEGAGAAEAGAEGAEEGAAGL>E<GTAATAAAGATARVVAAAGRALRGLSYRSL	4313
RYR2	SDLNERSANKEESEK-----ERPEEQGPRM>A<FFSILTVRSALFALRYNILTLMRMLSLKSL	4264
RYR3	SDSADRPEEEEEDEDSSYVLEIAGEEEEDG>S<LEPASAFAMACASVKRNVTDFLKRATLKNL	4165
cons	> <

See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.E4283V	c.12848A>T	Other Myopathy		rs193922853	SIFT: Polyphen:
Reports		Other Myopathy		Mutations in RYR1 in malignant hyperthermia and central core disease. Hum Mutat. 2006 27(10):977-89. 16917943
p.Glu4283Lys	c.12847G>A	Unknown			SIFT: Polyphen: