Table 5 of
Sodi, Mol Vis 2012; 18:2736-2748. Table 5 of
Sodi, Mol Vis 2012; 18:2736-2748.
Table 5. Novel BEST1 variant characterization by means of the Alamut software.
| cNomen | Exon | pNomen | Amino acid conservation | AGVGD class | SIFT (score) | POLYPHEN (score) |
|---|---|---|---|---|---|---|
| c.217A>C | 3 | p.Ile73Leu | Moderately | C0 | Tolerated (0.93) | Benign (1.274) |
| c.239T>G | 3 | p.Phe80Cys | Highly | C65 | Affected protein function (0.00) | Benign (2.771) |
| c.907G>A | 8 | p.Asp303Asn | Highly | C15 | Affected protein function (0.00) | Possibly damaging (1.960) |
| c.911A>G | 8 | p.Asp304Gly | Highly | C65 | Affected protein function (0.00) | Probably damaging (2.530) |