Paralogue Annotation for ANK2 residue 3707

Residue details

Gene: ANK2
Reference Sequences: LRG: LRG_327, Ensembl variant: ENST00000264366 / ENSP00000264366
Amino Acid Position: 3707
Reference Amino Acid: L - Leucine
Protein Domain:


Paralogue Variants mapped to ANK2 residue 3707

No paralogue variants have been mapped to residue 3707 for ANK2.



ANK2------------------VPKTEGDSSATA>L<FPQTHKEQVQQDFSGKMQDLPEESSLEYQQ3737
ANK1LVEDDTVDSDATNGLIDLLEQEEGQRSEEK>L<-PGS---KRQDDATGAGQDSENEVSLVSGH1676
ANK3------------------VDGWQNETSSGN>L<ESCAQARRVTGGLLDRLDDSPDQCRDSI-T4238
cons                              > <                              

See full Alignment of Paralogues


Known Variants in ANK2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.L3707Ic.11119C>A ConflictSIFT: tolerated
Polyphen: benign
ReportsOther Cardiac Phenotype A cardiac arrhythmia syndrome caused by loss of ankyrin-B function. Proc Natl Acad Sci U S A. 2004 101(24):9137-42. 15178757
Other Cardiac Phenotype An informatics approach to analyzing the incidentalome. Genet Med. 2013 15(1):36-44. doi: 10.1038/gim.2012.112. 22995991