Paralogue Annotation for RYR1 residue 1165

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 1165
Reference Amino Acid: G - Glycine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 1165

No paralogue variants have been mapped to residue 1165 for RYR1.

RYR1	SEPFGRPWQPGDVVGCMIDLTENTIIFTLN>G<EVLMSDSGSETAFREIEIGDGFLPVCSLGP	1195
RYR2	NEHYGRSWQAGDVVGCMVDMNEHTMMFTLN>G<EILLDDSGSELAFKDFDVGDGFIPVCSLGV	1209
RYR3	SGYFGRTWQPGDVVGCMINLDDASMIFTLN>G<ELLITNKGSELAFADYEIENGFVPICCLGL	1195
cons	> <

See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.G1165D	c.3494G>A	Other Myopathy			SIFT: Polyphen:
Reports		Other Myopathy		Muscle magnetic resonance imaging in congenital myopathies due to ryanodine receptor type 1 gene mutations. Arch Neurol. 2011 68(9):1171-9. 21911697