Paralogue Annotation for ANK2 residue 708

Residue details

Gene: ANK2
Reference Sequences: LRG: LRG_327, Ensembl variant: ENST00000264366 / ENSP00000264366
Amino Acid Position: 708
Reference Amino Acid: V - Valine
Protein Domain: Ankyrin domain region

Paralogue Variants mapped to ANK2 residue 708

No paralogue variants have been mapped to residue 708 for ANK2.

ANK2	VTLLLDKGANIHMSTKSGLTSLHLAAQEDK>V<NVADILTKHGADQDAHTKLGYTPLIVACHY	738
ANK1	VALLLSKQANGNLGNKSGLTPLHLVAQEGH>V<PVADVLIKHGVMVDATTRMGYTPLHVASHY	711
ANK3	VSLLLGRNANVNLSNKSGLTPLHLAAQEDR>V<NVAEVLVNQGAHVDAQTKMGYTPLHVGCHY	740
cons	> <

See full Alignment of Paralogues

Known Variants in ANK2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.V708M	c.2122G>A	Other Cardiac Phenotype		rs36210416	SIFT: deleterious Polyphen: probably damaging
Reports		Other Cardiac Phenotype		Association of torsades de pointes with novel and known single nucleotide polymorphisms in long QT syndrome genes. Am Heart J. 2006 152(6):1116-22. 17161064