Paralogue Annotation for ANK2 residue 117

Residue details

Gene: ANK2
Reference Sequences: LRG: LRG_327, Ensembl variant: ENST00000264366 / ENSP00000264366
Amino Acid Position: 117
Reference Amino Acid: V - Valine
Protein Domain: Ankyrin domain region

Paralogue Variants mapped to ANK2 residue 117

No paralogue variants have been mapped to residue 117 for ANK2.

ANK2	GSSVDSATKKGNTALHIASLAGQAEVVKVL>V<KEGANINAQSQNGFTPLYMAAQENHIDVVK	147
ANK1	EIILETTTKKGNTALHIAALAGQDEVVREL>V<NYGANVNAQSQKGFTPLYMAAQENHLEVVK	128
ANK3	EANVDAATKKGNTALHIASLAGQAEVVKVL>V<TNGANVNAQSQNGFTPLYMAAQENHLEVVK	157
cons	> <

See full Alignment of Paralogues

Known Variants in ANK2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.V117L	c.349G>C	Putative Benign			SIFT: Polyphen: