Table 2.
List of ANKRD11 mutations
| Patients | Nucleotide change | Predicted protein change | Nature of mutation | Origin |
|---|---|---|---|---|
| P1 | c2194C>T | p.Arg733Ter | Nonsense | De novo |
| P2 | c.3221_3222delAA | p.Lys1074Argfs*27 | Frameshift | De novo |
| P3 | c.5957_5958delGA | p.Arg1986llefs*45 | Frameshift | De novo |
| P4 | c.3974delT | p.Phe1325Serfs*20 | Frameshift | De novo |
| P5 | c.3222dupA | p.Glu1075ArgfsTer27 | Frameshift | Unknown |
| P6 | c.2866G>T | p.Glu956Ter | Nonsense | De novo |
| P7 | c.7534C>T | p.Arg2512Trp | Missense | De novo |
| P8 | c.2650delG | p.Asp884Thrfster93 | Frameshift | De novo |
| P9 | c.3339G>A | p.Trp1113Ter | Nonsense | Maternal |