Paralogue Annotation for ANK2 residue 3693
Residue details
Gene: ANK2Reference Sequences: LRG:
LRG_327, Ensembl variant:
ENST00000264366 /
ENSP00000264366Amino Acid Position: 3693
Reference Amino Acid: D - Aspartate
Protein Domain: Paralogue Variants mapped to ANK2 residue 3693
| Paralogue | Variant | Associated Disease | Mapping Quality | Consensus | Pubmed | | ANK1 | D1592N | Spherocytosis | High | 6 |
9887280 |
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 | EQAVSKESETCDHPPIVSEEDISVGYSTFQ>D<G----------------------------- | 3694 |
| ANK1 | EMSDMQVWSAGLTPSLVTAEDSSLECSKAE>D<SDATGHEWKLEGALSEEPRGPELGSLELVE | 1622 |
| ANK3 | ---------IFDYGNISGTRSFADENNVFH>D<P----------------------------- | 4196 |
| cons | > < | |
Known Variants in ANK2
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|
| p.D3693G | c.11078A>G |
Putative Benign | | | SIFT:
Polyphen: |