Paralogue Annotation for ANK2 residue 813

Residue details

Gene: ANK2
Reference Sequences: LRG: LRG_327, Ensembl variant: ENST00000264366 / ENSP00000264366
Amino Acid Position: 813
Reference Amino Acid: L - Leucine
Protein Domain: Ankyrin domain region

Paralogue Variants mapped to ANK2 residue 813

No paralogue variants have been mapped to residue 813 for ANK2.

ANK2	HGAKPNATTANGNTALAIAKRLGYISVVDT>L<KVVTEEVTTTTTTITEKHKLNVPETMTEVL	843
ANK1	NGASPNEVSSDGTTPLAIAKRLGYISVTDV>L<KVVTDET--SFVLVSDKHRMSFPETVDEIL	814
ANK3	NNASPNELTVNGNTALGIARRLGYISVVDT>L<KIVTEET-MTTTTVTEKHKMNVPETMNEVL	844
cons	> <

See full Alignment of Paralogues

Known Variants in ANK2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.L813M	c.2437C>A	Putative Benign			SIFT: Polyphen: