Paralogue Annotation for ANK2 residue 343

Residue details

Gene: ANK2
Reference Sequences: LRG: LRG_327, Ensembl variant: ENST00000264366 / ENSP00000264366
Amino Acid Position: 343
Reference Amino Acid: D - Aspartate
Protein Domain: Ankyrin domain region

Paralogue Variants mapped to ANK2 residue 343

No paralogue variants have been mapped to residue 343 for ANK2.

ANK2	QVVELLLERGAPLLARTKNGLSPLHMAAQG>D<HVECVKHLLQHKAPVDDVTLDYLTALHVAA	373
ANK1	RISEILLDHGAPIQAKTKNGLSPIHMAAQG>D<HLDCVRLLLQYDAEIDDITLDHLTPLHVAA	346
ANK3	QVVEMLLDRAAPILSKTKNGLSPLHMATQG>D<HLNCVQLLLQHNVPVDDVTNDYLTALHVAA	375
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See full Alignment of Paralogues

Known Variants in ANK2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.D343E	c.1029C>A	Putative Benign			SIFT: tolerated Polyphen: possibly damaging