Paralogue Annotation for RYR1 residue 1183

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 1183
Reference Amino Acid: I - Isoleucine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 1183

No paralogue variants have been mapped to residue 1183 for RYR1.

RYR1	DLTENTIIFTLNGEVLMSDSGSETAFREIE>I<GDGFLPVCSLGPGQVGHLNLGQDVSSLRFF	1213
RYR2	DMNEHTMMFTLNGEILLDDSGSELAFKDFD>V<GDGFIPVCSLGVAQVGRMNFGKDVSTLKYF	1227
RYR3	NLDDASMIFTLNGELLITNKGSELAFADYE>I<ENGFVPICCLGLSQIGRMNLGTDASTFKFY	1213
cons	> <

See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.I1183T	c.3548T>C	Putative Benign			SIFT: Polyphen: