Paralogue Annotation for RYR1 residue 2840

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 2840
Reference Amino Acid: R - Arginine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 2840

No paralogue variants have been mapped to residue 2840 for RYR1.

RYR1	SLKAMIAWEWTIEKAREGEEEK--TEKKKT>R<KISQSAQTYDPREGYNPQPPDLSAVTLSRE	2870
RYR2	SLKTMLAWGWRIERTREGDSMALYNRTRRI>S<QTSQV--SVDAAHGYSPRAIDMSNVTLSRD	2836
RYR3	SLKTMLAVGWTVERTKEGEALVQQRENEKL>R<SVSQA--NQ--GNSYSPAPLDLSNVVLSRE	2731
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.R2840W	c.8518C>T	Other Myopathy		rs193922830	SIFT: Polyphen:
Reports		Other Myopathy		Mutations in RYR1 in malignant hyperthermia and central core disease. Hum Mutat. 2006 27(10):977-89. 16917943