Paralogue Annotation for ANK2 residue 354

Residue details

Gene: ANK2
Reference Sequences: LRG: LRG_327, Ensembl variant: ENST00000264366 / ENSP00000264366
Amino Acid Position: 354
Reference Amino Acid: H - Histidine
Protein Domain: Ankyrin domain region

Paralogue Variants mapped to ANK2 residue 354

No paralogue variants have been mapped to residue 354 for ANK2.

ANK2	PLLARTKNGLSPLHMAAQGDHVECVKHLLQ>H<KAPVDDVTLDYLTALHVAAHCGHYRVTKLL	384
ANK1	PIQAKTKNGLSPIHMAAQGDHLDCVRLLLQ>Y<DAEIDDITLDHLTPLHVAAHCGHHRVAKVL	357
ANK3	PILSKTKNGLSPLHMATQGDHLNCVQLLLQ>H<NVPVDDVTNDYLTALHVAAHCGHYKVAKVL	386
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See full Alignment of Paralogues

Known Variants in ANK2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.H354Y	c.1060C>T	Putative Benign		rs375189482	SIFT: tolerated Polyphen: benign