Paralogue Annotation for ANK2 residue 3754

Residue details

Gene: ANK2
Reference Sequences: LRG: LRG_327, Ensembl variant: ENST00000264366 / ENSP00000264366
Amino Acid Position: 3754
Reference Amino Acid: A - Alanine
Protein Domain:

Paralogue Variants mapped to ANK2 residue 3754

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
ANK3	T4255P	Autism spectrum disorder	Low	3	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	LPEESSLEYQQE---YFVTTPGTETSETQK>A<M---------------IVPSSPSKTP--EE	3767
ANK1	SENEVSLVSGHQRGQARITHSPTVSQVTER>S<QDRLQDWDADGSIVSYLQDAAQGSWQ--EE	1724
ANK3	SPDQCRDSI-TS---YLKGEAGKFEANGSH>T<E---------------ITPEAKTKSYFPES	4270
cons	> <

See full Alignment of Paralogues

Known Variants in ANK2

There are currently no reported variants at residue 3754 for ANK2.