Paralogue Annotation for ANK2 residue 410

Residue details

Gene: ANK2
Reference Sequences: LRG: LRG_327, Ensembl variant: ENST00000264366 / ENSP00000264366
Amino Acid Position: 410
Reference Amino Acid: R - Arginine
Protein Domain: Ankyrin domain region

Paralogue Variants mapped to ANK2 residue 410

No paralogue variants have been mapped to residue 410 for ANK2.

ANK2	VTKLLLDKRANPNARALNGFTPLHIACKKN>R<IKVMELLVKYGASIQAITESGLTPIHVAAF	440
ANK1	VAKVLLDKGAKPNSRALNGFTPLHIACKKN>H<VRVMELLLKTGASIDAVTESGLTPLHVASF	413
ANK3	VAKVLLDKKANPNAKALNGFTPLHIACKKN>R<IKVMELLLKHGASIQAVTESGLTPIHVAAF	442
cons	> <

See full Alignment of Paralogues

Known Variants in ANK2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.R410C	c.1228C>T	Putative Benign		rs41279311	SIFT: deleterious Polyphen: probably damaging
p.Arg410Leu	c.1229G>T	Unknown			SIFT: Polyphen: