Paralogue Annotation for RYR1 residue 1144

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 1144
Reference Amino Acid: P - Proline
Protein Domain:

Paralogue Variants mapped to RYR1 residue 1144

No paralogue variants have been mapped to residue 1144 for RYR1.

RYR1	LGADELAYVFNGHRGQRWHLGSEPFGRPWQ>P<GDVVGCMIDLTENTIIFTLNGEVLMSDSGS	1174
RYR2	LGSDERAFAFDGFKAQRWHQGNEHYGRSWQ>A<GDVVGCMVDMNEHTMMFTLNGEILLDDSGS	1188
RYR3	LGADDQAFVFEGNRGQRWHQGSGYFGRTWQ>P<GDVVGCMINLDDASMIFTLNGELLITNKGS	1174
cons	> <

See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.P1144L	c.3431C>T	Putative Benign		rs201940876	SIFT: Polyphen: benign