Paralogue Annotation for RYR2 residue 1581

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 1581
Reference Amino Acid: Q - Glutamine
Protein Domain: Cytoplasmic region


Paralogue Variants mapped to RYR2 residue 1581

No paralogue variants have been mapped to residue 1581 for RYR2.



RYR2NVFQFELGRIKNVMPLSAGLFKSEHKNPVP>Q<CPPRLHVQFLSHVLWSRMPNQFLKVDVSRI1611
RYR1NVIQFELGKQKNIMPLSAAMFQSERKNPAP>Q<CPPRLEMQMLMPVSWSRMPNHFLQVETRRA1619
RYR3SLFQFELGKLKNAMPLSAAIFRSEEKNPVP>Q<CPPRLDVQTIQPVLWSRMPNSFLKVETERV1515
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.Q1581Pc.4742A>C Other Cardiac PhenotypeSIFT:
Polyphen:
ReportsOther Cardiac Phenotype Targeted next generation sequencing application in cardiac channelopathies: Analysis of a cohort of autopsy-negative sudden unexplained deaths. Forensic Sci Int. 2015 254:5-11. doi: 10.1016/j.forsciint.2015.06.023. 26164358