Paralogue Annotation for RYR1 residue 1179

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 1179
Reference Amino Acid: R - Arginine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 1179

No paralogue variants have been mapped to residue 1179 for RYR1.

RYR1	GCMIDLTENTIIFTLNGEVLMSDSGSETAF>R<EIEIGDGFLPVCSLGPGQVGHLNLGQDVSS	1209
RYR2	GCMVDMNEHTMMFTLNGEILLDDSGSELAF>K<DFDVGDGFIPVCSLGVAQVGRMNFGKDVST	1223
RYR3	GCMINLDDASMIFTLNGELLITNKGSELAF>A<DYEIENGFVPICCLGLSQIGRMNLGTDAST	1209
cons	> <

See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.R1179W	c.3535C>T	Other Myopathy			SIFT: Polyphen:
Reports		Other Myopathy		Clinical and genetic findings in a large cohort of patients with ryanodine receptor 1 gene-associated myopathies. Hum Mutat. 2012 33(6):981-8. doi: 10.1002/humu.22056. 22473935