Paralogue Annotation for ANK2 residue 393

Residue details

Gene: ANK2
Reference Sequences: LRG: LRG_327, Ensembl variant: ENST00000264366 / ENSP00000264366
Amino Acid Position: 393
Reference Amino Acid: A - Alanine
Protein Domain: Ankyrin domain region

Paralogue Variants mapped to ANK2 residue 393

No paralogue variants have been mapped to residue 393 for ANK2.

ANK2	LDYLTALHVAAHCGHYRVTKLLLDKRANPN>A<RALNGFTPLHIACKKNRIKVMELLVKYGAS	423
ANK1	LDHLTPLHVAAHCGHHRVAKVLLDKGAKPN>S<RALNGFTPLHIACKKNHVRVMELLLKTGAS	396
ANK3	NDYLTALHVAAHCGHYKVAKVLLDKKANPN>A<KALNGFTPLHIACKKNRIKVMELLLKHGAS	425
cons	> <

See full Alignment of Paralogues

Known Variants in ANK2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.A393T	c.1177G>A	Putative Benign		rs147458476	SIFT: Polyphen: benign
p.A393S	c.1177G>T	Putative Benign		rs147458476	SIFT: tolerated Polyphen: possibly damaging