Paralogue Annotation for RYR1 residue 1140

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 1140
Reference Amino Acid: R - Arginine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 1140

No paralogue variants have been mapped to residue 1140 for RYR1.

RYR1	PDVELGADELAYVFNGHRGQRWHLGSEPFG>R<PWQPGDVVGCMIDLTENTIIFTLNGEVLMS	1170
RYR2	PDQELGSDERAFAFDGFKAQRWHQGNEHYG>R<SWQAGDVVGCMVDMNEHTMMFTLNGEILLD	1184
RYR3	PDVELGADDQAFVFEGNRGQRWHQGSGYFG>R<TWQPGDVVGCMINLDDASMIFTLNGELLIT	1170
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.R1140C	c.3418C>T	Other Myopathy		rs193922776	SIFT: Polyphen:
Reports		Other Myopathy		Mutations in RYR1 in malignant hyperthermia and central core disease. Hum Mutat. 2006 27(10):977-89. 16917943
p.R1140H	c.3419G>A	Putative Benign			SIFT: Polyphen: