Paralogue Annotation for ANK2 residue 2453

Residue details

Gene: ANK2
Reference Sequences: LRG: LRG_327, Ensembl variant: ENST00000264366 / ENSP00000264366
Amino Acid Position: 2453
Reference Amino Acid: H - Histidine
Protein Domain:

Paralogue Variants mapped to ANK2 residue 2453

No paralogue variants have been mapped to residue 2453 for ANK2.

ANK2	EPSPLKESPCRDSLESSPVEPKMKAGIFPS>H<FPLP--------------------------	2457
ANK1	------------------------------>-<------------------------------
ANK3	EFSPGKESPSSDVFDHSPIDGLEKLAPLAQ>T<EGGKEIKTLPVYVSFVQVGKQYEKEIQQGG	3113
cons	> <

See full Alignment of Paralogues

Known Variants in ANK2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.H2453Q	c.7359C>G	Putative Benign			SIFT: Polyphen: