Paralogue Annotation for ANK2 residue 304

Residue details

Gene: ANK2
Reference Sequences: LRG: LRG_327, Ensembl variant: ENST00000264366 / ENSP00000264366
Amino Acid Position: 304
Reference Amino Acid: H - Histidine
Protein Domain: Ankyrin domain region

Paralogue Variants mapped to ANK2 residue 304

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
ANK1	H277R	Spherocytosis	High	9	11102985

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	SKRGNTNMVKLLLDRGGQIDAKTRDGLTPL>H<CAARSGHDQVVELLLERGAPLLARTKNGLS	334
ANK1	SRRGNVIMVRLLLDRGAQIETKTKDELTPL>H<CAARNGHVRISEILLDHGAPIQAKTKNGLS	307
ANK3	SKRGNANMVKLLLDRGAKIDAKTRDGLTPL>H<CGARSGHEQVVEMLLDRAAPILSKTKNGLS	336
cons	> <

See full Alignment of Paralogues

Known Variants in ANK2

There are currently no reported variants at residue 304 for ANK2.