Paralogue Annotation for ANK2 residue 3848

Residue details

Gene: ANK2
Reference Sequences: LRG: LRG_327, Ensembl variant: ENST00000264366 / ENSP00000264366
Amino Acid Position: 3848
Reference Amino Acid: T - Threonine
Protein Domain:


Paralogue Variants mapped to ANK2 residue 3848

No paralogue variants have been mapped to residue 3848 for ANK2.



ANK2--NQPE-TCERLDEDAAFEKGDDMPEIPPE>T<VTEEEYIDEHGHTVVKKVTRKIIRRYVSSE3878
ANK1QQGQEEQVQEAKNTFTQVVQGNEFQNIPGE>Q<VTEEQFTDEQGNIVTKKIIRKVVRQIDLSS1839
ANK3--CVPV-SMKKMSRTSPADGKPRLSLHEEE>G<SS----------------------------4350
cons                              > <                              

See full Alignment of Paralogues


Known Variants in ANK2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.T3848Ac.11542A>G Putative BenignSIFT: tolerated
Polyphen: benign
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