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) |
Predictions of the scoring methods (Align GVGD, SIFT, Polyphen) are shown.