Paralogue Annotation for ANK2 residue 1622

Residue details

Gene: ANK2
Reference Sequences: LRG: LRG_327, Ensembl variant: ENST00000264366 / ENSP00000264366
Amino Acid Position: 1622
Reference Amino Acid: L - Leucine
Protein Domain:


Paralogue Variants mapped to ANK2 residue 1622

No paralogue variants have been mapped to residue 1622 for ANK2.



ANK2-CVP---------------------LPKEQ>L<QTVQDKAGKKCEALAVGRSSEKEGKDIPPD1652
ANK1------------------------------>-<------------------------------
ANK3SSISATTSSVTSSIITVPVYSVVNVLPEPA>L<KKLPDSNSFTKSAAALLSPIKTLTTETHPQ1866
cons                              > <                              

See full Alignment of Paralogues


Known Variants in ANK2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.L1622Ic.4864C>A Inherited ArrhythmiaLQTSrs199473343SIFT: tolerated
Polyphen: benign
ReportsInherited ArrhythmiaLQTS A cardiac arrhythmia syndrome caused by loss of ankyrin-B function. Proc Natl Acad Sci U S A. 2004 101(24):9137-42. 15178757
Inherited ArrhythmiaLQTS Targeted mutational analysis of ankyrin-B in 541 consecutive, unrelated patients referred for long QT syndrome genetic testing and 200 healthy subjects. Heart Rhythm. 2005 2(11):1218-23. 16253912