Table 2.
Clinical phenotypes of ankyrin-B missense mutations
| ANK2 exon | Residue change | Protein domain | Clinical phenotype |
|---|---|---|---|
| Exon 37 | T1404I | Spectrin binding | Ankyrin-B syndrome |
| Exon 38 | E1425G | Spectrin binding | Ankyrin-B syndrome |
| Exon 43 | V1516D | Death | Ankyrin-B syndrome |
| Exon 43 | T1552N | Death | Ankyrin-B syndrome |
| Exon 44 | L1622I | C-terminal | Ankyrin-B syndrome |
| Exon 44 | T1626N | C-terminal | Ankyrin-B syndrome |
| Exon 47 | V1777M | C-terminal | Ankyrin-B syndrome |
| Exon 48 | R1788W | C-terminal | Ankyrin-B syndrome |
| Exon 48 | E1813K | C-terminal | Ankyrin-B syndrome |
Ankyrin-B syndrome may include a number of clinical phenotypes including sinus node dysfunction (bradycardia and heart rate variability), atrial fibrillation, polymorphic ventricular arrhythmia and risk of sudden cardiac death.