Paralogue Annotation for ANK2 residue 475

Residue details

Gene: ANK2
Reference Sequences: LRG: LRG_327, Ensembl variant: ENST00000264366 / ENSP00000264366
Amino Acid Position: 475
Reference Amino Acid: G - Glycine
Protein Domain: Ankyrin domain region

Paralogue Variants mapped to ANK2 residue 475

No paralogue variants have been mapped to residue 475 for ANK2.

ANK2	NIVLLLLQNGASPDVTNIRGETALHMAARA>G<QVEVVRCLLRNGALVDARAREEQTPLHIAS	505
ANK1	PIVKNLLQRGASPNVSNVKVETPLHMAARA>G<HTEVAKYLLQNKAKVNAKAKDDQTPLHCAA	478
ANK3	NIVSQLMHHGASPNTTNVRGETALHMAARS>G<QAEVVRYLVQDGAQVEAKAKDDQTPLHISA	507
cons	> <

See full Alignment of Paralogues

Known Variants in ANK2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.G475R	c.1423G>A	Other Cardiac Phenotype		rs36210415	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