Paralogue Annotation for ANK2 residue 498

Residue details

Gene: ANK2
Reference Sequences: LRG: LRG_327, Ensembl variant: ENST00000264366 / ENSP00000264366
Amino Acid Position: 498
Reference Amino Acid: Q - Glutamine
Protein Domain: Ankyrin domain region


Paralogue Variants mapped to ANK2 residue 498

No paralogue variants have been mapped to residue 498 for ANK2.



ANK2LHMAARAGQVEVVRCLLRNGALVDARAREE>Q<TPLHIASRLGKTEIVQLLLQHMAHPDAATT528
ANK1LHMAARAGHTEVAKYLLQNKAKVNAKAKDD>Q<TPLHCAARIGHTNMVKLLLENNANPNLATT501
ANK3LHMAARSGQAEVVRYLVQDGAQVEAKAKDD>Q<TPLHISARLGKADIVQQLLQQGASPNAATT530
cons                              > <                              

See full Alignment of Paralogues


Known Variants in ANK2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.Q498Ec.1492C>G UnknownSIFT:
Polyphen:
ReportsUnknown Novel genotype-phenotype associations demonstrated by high-throughput sequencing in patients with hypertrophic cardiomyopathy. Heart. 2015 101(4):294-301. doi: 10.1136/heartjnl-2014-306387. 25351510