Paralogue Annotation for ANK2 residue 558

Residue details

Gene: ANK2
Reference Sequences: LRG: LRG_327, Ensembl variant: ENST00000264366 / ENSP00000264366
Amino Acid Position: 558
Reference Amino Acid: L - Leucine
Protein Domain: Ankyrin domain region

Paralogue Variants mapped to ANK2 residue 558

No paralogue variants have been mapped to residue 558 for ANK2.

ANK2	TNGYTPLHISAREGQVDVASVLLEAGAAHS>L<ATKKGFTPLHVAAKYGSLDVAKLLLQRRAA	588
ANK1	TAGHTPLHIAAREGHVETVLALLEKEASQA>C<MTKKGFTPLHVAAKYGKVRVAELLLERDAH	561
ANK3	TSGYTPLHLSAREGHEDVAAFLLDHGASLS>I<TTKKGFTPLHVAAKYGKLEVANLLLQKSAS	590
cons	> <

See full Alignment of Paralogues

Known Variants in ANK2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.L558S	c.1673T>C	Putative Benign		rs139199018	SIFT: Polyphen: probably damaging