Paralogue Annotation for RYR1 residue 2880

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 2880
Reference Amino Acid: E - Glutamate
Protein Domain:

Paralogue Variants mapped to RYR1 residue 2880

No paralogue variants have been mapped to residue 2880 for RYR1.

RYR1	DPREGYNPQPPDLSAVTLSRELQAMAEQLA>E<NYHNTWGRKKKQELEAKGGGTHPLLVPYDT	2910
RYR2	DAAHGYSPRAIDMSNVTLSRDLHAMAEMMA>E<NYHNIWAKKKKMELESKGGGNHPLLVPYDT	2876
RYR3	--GNSYSPAPLDLSNVVLSRELQGMVEVVA>E<NYHNIWAKKKKLELESKGGGSHPLLVPYDT	2771
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.E2880K	c.8638G>A	Other Myopathy		rs112772310	SIFT: Polyphen:
Reports		Other Myopathy		Mutations in RYR1 in malignant hyperthermia and central core disease. Hum Mutat. 2006 27(10):977-89. 16917943