Paralogue Annotation for RYR1 residue 1149

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 1149
Reference Amino Acid: G - Glycine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 1149

No paralogue variants have been mapped to residue 1149 for RYR1.

RYR1	LAYVFNGHRGQRWHLGSEPFGRPWQPGDVV>G<CMIDLTENTIIFTLNGEVLMSDSGSETAFR	1179
RYR2	RAFAFDGFKAQRWHQGNEHYGRSWQAGDVV>G<CMVDMNEHTMMFTLNGEILLDDSGSELAFK	1193
RYR3	QAFVFEGNRGQRWHQGSGYFGRTWQPGDVV>G<CMINLDDASMIFTLNGELLITNKGSELAFA	1179
cons	> <

See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.G1149D	c.3446G>A	Putative Benign			SIFT: deleterious Polyphen: probably damaging