Paralogue Annotation for ANK2 residue 206

Residue details

Gene: ANK2
Reference Sequences: LRG: LRG_327, Ensembl variant: ENST00000264366 / ENSP00000264366
Amino Acid Position: 206
Reference Amino Acid: K - Lysine
Protein Domain: Ankyrin domain region

Paralogue Variants mapped to ANK2 residue 206

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
ANK3	K216R	Lennox-Gastaut syndrome	High	9	23934111

To assess whether the paralogue annotation here confidently predicts that variation at this residue is pathogenic, it is important to check the reports in the Pubmed links above to ascertain that the mutations in these paralogues have been proved likely to be disease-causing. It is also important to check that the direction of effect of the variant in the paralogue is compatible with your observed phenotype in ANK2.

ANK2	NQAVAILLENDTKGKVRLPALHIAARKDDT>K<SAALLLQNDHNADVQSKMMVNRTTESGFTP	236
ANK1	ENVVAHLINYGTKGKVRLPALHIAARNDDT>R<TAAVLLQNDPNPDVLSK--------TGFTP	209
ANK3	DQVVSLLLENDTKGKVRLPALHIAARKDDT>K<AAALLLQNDNNADVESK--------SGFTP	238
cons	> <

See full Alignment of Paralogues

Known Variants in ANK2

There are currently no reported variants at residue 206 for ANK2.