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.



RYR2NEHTMMFTLNGEILLDDSGSELAFKDFDVG>D<GFIPVCSLGVAQVGRMNFGKDVSTLKYFTI1229
RYR1TENTIIFTLNGEVLMSDSGSETAFREIEIG>D<GFLPVCSLGPGQVGHLNLGQDVSSLRFFAI1215
RYR3DDASMIFTLNGELLITNKGSELAFADYEIE>N<GFVPICCLGLSQIGRMNLGTDASTFKFYTM1215
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.D1199Gc.3596A>G Putative BenignSIFT: tolerated
Polyphen: possibly damaging
ReportsUnknown The landscape of genetic variation in dilated cardiomyopathy as surveyed by clinical DNA sequencing. Genet Med 2014 Aug;16(8):601-8. 24503780
p.D1199Nc.3595G>A Putative BenignSIFT:
Polyphen: