Table 2 ANK1 mutation of the family members
Family members | Exon | Reference sequence | Type | cDNA | Protein |
|---|---|---|---|---|---|
Father | 8 | NM_000037.3 | Wild | c.790C | p. Gln264 |
Mather | 8 | NM_000037.3 | Mutant | c.790C > T | p. Gln264Ter |
propositus | 8 | NM_000037.3 | Mutant | c.790C > T | p. Gln264Ter |