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<FPQTHKEQVQQDFSGKMQDLPEESSLEYQQ	3737
ANK1	LVEDDTVDSDATNGLIDLLEQEEGQRSEEK>L<-PGS---KRQDDATGAGQDSENEVSLVSGH	1676
ANK3	------------------VDGWQNETSSGN>L<ESCAQARRVTGGLLDRLDDSPDQCRDSI-T	4238
cons	> <

See full Alignment of Paralogues

Known Variants in ANK2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.L3707I	c.11119C>A	Conflict		rs35530544	SIFT: tolerated Polyphen: benign
Reports		Other 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