Paralogue Annotation for RYR2 residue 1209

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 1209
Reference Amino Acid: V - Valine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 1209

No paralogue variants have been mapped to residue 1209 for RYR2.

RYR2	GEILLDDSGSELAFKDFDVGDGFIPVCSLG>V<AQVGRMNFGKDVSTLKYFTICGLQEGYEPF	1239
RYR1	GEVLMSDSGSETAFREIEIGDGFLPVCSLG>P<GQVGHLNLGQDVSSLRFFAICGLQEGFEPF	1225
RYR3	GELLITNKGSELAFADYEIENGFVPICCLG>L<SQIGRMNLGTDASTFKFYTMCGLQEGFEPF	1225
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.Val1209Met	c.3625G>A	Unknown			SIFT: Polyphen: