Paralogue Annotation for RYR2 residue 1199

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 1199
Reference Amino Acid: D - Aspartate
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 1199

No paralogue variants have been mapped to residue 1199 for RYR2.

RYR2	NEHTMMFTLNGEILLDDSGSELAFKDFDVG>D<GFIPVCSLGVAQVGRMNFGKDVSTLKYFTI	1229
RYR1	TENTIIFTLNGEVLMSDSGSETAFREIEIG>D<GFLPVCSLGPGQVGHLNLGQDVSSLRFFAI	1215
RYR3	DDASMIFTLNGELLITNKGSELAFADYEIE>N<GFVPICCLGLSQIGRMNLGTDASTFKFYTM	1215
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.D1199G	c.3596A>G	Putative Benign		rs149760466	SIFT: tolerated Polyphen: possibly damaging
Reports		Unknown		The landscape of genetic variation in dilated cardiomyopathy as surveyed by clinical DNA sequencing. Genet Med 2014 Aug;16(8):601-8. 24503780
p.D1199N	c.3595G>A	Putative Benign			SIFT: Polyphen: