Paralogue Annotation for ANK2 residue 348

Residue details

Gene: ANK2
Reference Sequences: LRG: LRG_327, Ensembl variant: ENST00000264366 / ENSP00000264366
Amino Acid Position: 348
Reference Amino Acid: V - Valine
Protein Domain: Ankyrin domain region

Paralogue Variants mapped to ANK2 residue 348

No paralogue variants have been mapped to residue 348 for ANK2.

ANK2	LLERGAPLLARTKNGLSPLHMAAQGDHVEC>V<KHLLQHKAPVDDVTLDYLTALHVAAHCGHY	378
ANK1	LLDHGAPIQAKTKNGLSPIHMAAQGDHLDC>V<RLLLQYDAEIDDITLDHLTPLHVAAHCGHH	351
ANK3	LLDRAAPILSKTKNGLSPLHMATQGDHLNC>V<QLLLQHNVPVDDVTNDYLTALHVAAHCGHY	380
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See full Alignment of Paralogues

Known Variants in ANK2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.V348A	c.1043T>C	Putative Benign			SIFT: Polyphen: