Paralogue Annotation for ANK2 residue 3806

Residue details

Gene: ANK2
Reference Sequences: LRG: LRG_327, Ensembl variant: ENST00000264366 / ENSP00000264366
Amino Acid Position: 3806
Reference Amino Acid: S - Serine
Protein Domain:


Paralogue Variants mapped to ANK2 residue 3806

No paralogue variants have been mapped to residue 3806 for ANK2.



ANK2GSPIIQEPEEP-------------SEHREE>S<SPRKTSLVIVESAD--NQPE-TCERLDEDA3833
ANK1GTSTMTEGLEPGGSQEYEKVLVSVSEHTWT>E<QPEAESSQADRDRRQQGQEEQVQEAKNTFT1794
ANK3GSGHVEEPASP-------------LAAYQK>S<LEETSKLIIEETKP--CVPV-SMKKMSRTS4333
cons                              > <                              

See full Alignment of Paralogues


Known Variants in ANK2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.S3806Tc.11417G>C Inherited ArrhythmiaLQTSrs148654834SIFT: tolerated
Polyphen: probably damaging
ReportsInherited 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