Paralogue Annotation for ANK2 residue 2173

Residue details

Gene: ANK2
Reference Sequences: LRG: LRG_327, Ensembl variant: ENST00000264366 / ENSP00000264366
Amino Acid Position: 2173
Reference Amino Acid: K - Lysine
Protein Domain:

Paralogue Variants mapped to ANK2 residue 2173

No paralogue variants have been mapped to residue 2173 for ANK2.

ANK2	---------------LSLQSGALDGSSESL>K<NEGVAGSPCGSLMEGTPQISSEESYKHEGL	2203
ANK1	------------------------------>-<------------------------------
ANK3	LHYSGNVSSPKHAMWMRFTEDRLDRGREKL>I<YEDRVDRTVKEAEEKLTEVSQFFRDKTEKL	2602
cons	> <

See full Alignment of Paralogues

Known Variants in ANK2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.K2173Q	c.6517A>C	Putative Benign			SIFT: deleterious Polyphen: benign