Paralogue Annotation for ANK2 residue 2340

Residue details

Gene: ANK2
Reference Sequences: LRG: LRG_327, Ensembl variant: ENST00000264366 / ENSP00000264366
Amino Acid Position: 2340
Reference Amino Acid: T - Threonine
Protein Domain:


Paralogue Variants mapped to ANK2 residue 2340

No paralogue variants have been mapped to residue 2340 for ANK2.



ANK2ACDEGQRTFGSSAHKT-----QTDSEVQES>T<ATSDETKALPLPEASVKTD-----------2359
ANK1------------------------------>-<------------------------------
ANK3SVDQKNEFMSVTERERKLLTNGSLSEIKEM>T<VKSPSKKVLYR-EYVVKEGDHPGGLLDQPS2949
cons                              > <                              

See full Alignment of Paralogues


Known Variants in ANK2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.T2340Ac.7018A>G BenignSIFT:
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