Paralogue Annotation for RYR2 residue 1760

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 1760
Reference Amino Acid: R - Arginine
Protein Domain: Cytoplasmic region


Paralogue Variants mapped to RYR2 residue 1760

No paralogue variants have been mapped to residue 1760 for RYR2.



RYR2ITLFPD------ENKKHGLPGIGLSTSLRP>R<MQFSSPSFVSI------SNECYQYSPEFPL1784
RYR1ITLFPPGRSTENGHPRHGLPGVGVTTSLRP>P<HHFSPPCFVAALPAAGAAEAPARLSPAIPL1804
RYR3IRLFPD------ESKRHGLPGVGLRTCLKP>G<FRFSTPCFVVT------GEDHQKQSPEIPL1688
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.R1760Wc.5278C>T Inherited ArrhythmiaSIFT:
Polyphen:
ReportsInherited ArrhythmiaLQTS Exome Analyses of Long QT Syndrome Reveal Candidate Pathogenic Mutations in Calmodulin-Interacting Genes. PLoS One. 2015 10(7):e0130329. doi: 10.1371/journal.pone.0130329. 26132555
p.R1760Gc.5278C>G Putative BenignSIFT:
Polyphen:
p.R1760Qc.5279G>A Putative BenignSIFT:
Polyphen: