Paralogue Annotation for ANK2 residue 624

Residue details

Gene: ANK2
Reference Sequences: LRG: LRG_327, Ensembl variant: ENST00000264366 / ENSP00000264366
Amino Acid Position: 624
Reference Amino Acid: A - Alanine
Protein Domain: Ankyrin domain region

Paralogue Variants mapped to ANK2 residue 624

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
ANK1	S597R	Schizophrenia	Medium	7	24463507

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	KNGLTPLHVAAHYDNQKVALLLLEKGASPH>A<TAKNGYTPLHIAAKKNQMQIASTLLNYGAE	654
ANK1	KNGLTPLHVAVHHNNLDIVKLLLPRGGSPH>S<PAWNGYTPLHIAAKQNQVEVARSLLQYGGS	627
ANK3	KSGLTPLHVAAHYDNQKVALLLLDQGASPH>A<AAKNGYTPLHIAAKKNQMDIATTLLEYGAD	656
cons	> <

See full Alignment of Paralogues

Known Variants in ANK2

There are currently no reported variants at residue 624 for ANK2.