Paralogue Annotation for ANK2 residue 350

Residue details

Gene: ANK2
Reference Sequences: LRG: LRG_327, Ensembl variant: ENST00000264366 / ENSP00000264366
Amino Acid Position: 350
Reference Amino Acid: H - Histidine
Protein Domain: Ankyrin domain region

Paralogue Variants mapped to ANK2 residue 350

No paralogue variants have been mapped to residue 350 for ANK2.

ANK2	ERGAPLLARTKNGLSPLHMAAQGDHVECVK>H<LLQHKAPVDDVTLDYLTALHVAAHCGHYRV	380
ANK1	DHGAPIQAKTKNGLSPIHMAAQGDHLDCVR>L<LLQYDAEIDDITLDHLTPLHVAAHCGHHRV	353
ANK3	DRAAPILSKTKNGLSPLHMATQGDHLNCVQ>L<LLQHNVPVDDVTNDYLTALHVAAHCGHYKV	382
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See full Alignment of Paralogues

Known Variants in ANK2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.H350Y	c.1048C>T	Putative Benign			SIFT: Polyphen: