Paralogue Annotation for ANK2 residue 1469

Residue details

Gene: ANK2
Reference Sequences: LRG: LRG_327, Ensembl variant: ENST00000264366 / ENSP00000264366
Amino Acid Position: 1469
Reference Amino Acid: D - Aspartate
Protein Domain:

Paralogue Variants mapped to ANK2 residue 1469

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
ANK3	S1569A	Autism spectrum disorder	Low	2	22865819

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	-----------NEVPVL----------ASP>D<LLSEVSEMKQDLIKMTAILTTDVSDKAGSI	1499
ANK1	-----STP---------------------->-<------------------------------	1394
ANK3	SIWSVSTPSPIKSTLGASTTSSVKSISDVA>S<PIRSFRTMSSPIKTVVSQSPYN-------I	1592
cons	> <

See full Alignment of Paralogues

Known Variants in ANK2

There are currently no reported variants at residue 1469 for ANK2.