Paralogue Annotation for ANK2 residue 248

Residue details

Gene: ANK2
Reference Sequences: LRG: LRG_327, Ensembl variant: ENST00000264366 / ENSP00000264366
Amino Acid Position: 248
Reference Amino Acid: V - Valine
Protein Domain: Ankyrin domain region

Paralogue Variants mapped to ANK2 residue 248

No paralogue variants have been mapped to residue 248 for ANK2.

ANK2	ADVQSKMMVNRTTESGFTPLHIAAHYGNVN>V<ATLLLNRGAAVDFTARNGITPLHVASKRGN	278
ANK1	PDVLSK--------TGFTPLHIAAHYENLN>V<AQLLLNRGASVNFTPQNGITPLHIASRRGN	251
ANK3	ADVESK--------SGFTPLHIAAHYGNIN>V<ATLLLNRAAAVDFTARNDITPLHVASKRGN	280
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See full Alignment of Paralogues

Known Variants in ANK2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.V248M	c.742G>A	Putative Benign			SIFT: Polyphen: