Table 2.
Potentially disease-associated FOXO3 sequence variants. These correspond to the subset of sequence variants that are not silent or common in controls, and are indicated by a question mark in Table 1. Grantham scores (Grantham, 1974) were calculated using SAPRED (Ye et al., 2007). Other functional prediction methods were performed with SIFT and Polyphen algorithms (Ng and Henikoff, 2001) (Ramensky et al., 2002).
Variant | SIFT prediction | SAPRED prediction | Polyphen Prediction | Grantham Score | Clinical Correlation | Zygosity |
---|---|---|---|---|---|---|
c.280C>T (p.Leu94Phe) | 0.13 (tolerated) | 0.19 (neutral) | 1.062 (benign) | 22 | PA (0) POF (1) | Het |
c.1021G>A (p.Ala341Thr) | 0.54 (tolerated) | 0.46 (neutral) | 0.773 (benign) | 58 | PA (0) POF (1) | Het |
c.1156C>T (p.Leu386Phe) | 0.08 (tolerated) | 0.24 (neutral) | 1.559 (possibly damaging) | 22 | PA (0) POF (1) | Het |