Paralogue Annotation for RYR1 residue 2867

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 2867
Reference Amino Acid: L - Leucine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 2867

No paralogue variants have been mapped to residue 2867 for RYR1.

RYR1	KKTRKISQSAQTYDPREGYNPQPPDLSAVT>L<SRELQAMAEQLAENYHNTWGRKKKQELEAK	2897
RYR2	RRISQTSQV--SVDAAHGYSPRAIDMSNVT>L<SRDLHAMAEMMAENYHNIWAKKKKMELESK	2863
RYR3	EKLRSVSQA--NQ--GNSYSPAPLDLSNVV>L<SRELQGMVEVVAENYHNIWAKKKKLELESK	2758
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.L2867Q	c.8600T>A	Other Myopathy		rs193922831	SIFT: Polyphen:
Reports		Other Myopathy		Frequency and localization of mutations in the 106 exons of the RYR1 gene in 50 individuals with malignant hyperthermia. Hum Mutat. 2006 27(8):830. 16835904
p.L2867R	c.8600T>G	Putative Benign			SIFT: Polyphen: