Table 2 of
Mao, Mol Vis 2012; 18:705-713. Table 2 of
Mao, Mol Vis 2012; 18:705-713.
Table 2. SH3PXD2B variants.
Variations |
BLOSUM62 matrix score |
Located within protein domain |
Primary congenital glaucoma n=21 |
Axenfeld-Reiger syndrome n=30 |
POAG n=127 |
Normal control subjects n=89 |
|---|---|---|---|---|---|---|
| Non-synonymous coding sequence variations | ||||||
| Gly245Arg | −2 | SH3 #2 | 0 | 0 | 1 | 0 |
| Pro295Gln | −1 | - | 0 | 0 | 2 | 2 |
| Arg356Gln | 1 | - | 0 | 0 | 1 | 0 |
| Glu396Lys | 1 | SH3 #2 | 1 | 0 | 0 | 0 |
| Ala431Thr | 0 | - | 0 | 1 | 0 | 0 |
| Gly481Arg | −2 | - | 0 | 0 | 1 | 0 |
| Pro571Leu | −3 | - | 0 | 1 | 0 | 0 |
| Pro826Leu | −3 | - | 0 | 0 | 0 | 1 |
| Ile832Val | 3 | - | 0 | 0 | 1 | 0 |
| Gly833Glu | −2 | - | 0 | 0 | 0 | 1 |
| Glu834Lys | 1 | - | 0 | 0 | 0 | 1 |
| Total | 1 | 2 | 6 | 5 | ||
| Synonymous coding sequence variations | ||||||
| Ala195Ala | - | - | 0 | 0 | 1 | 0 |
| Ser174Ser | - | - | 0 | 0 | 3 | 1 |
| Ser35Ser | - | - | 16 | 22 | 90 | 61 |
| Asp385Asp | - | - | 1 | 0 | 0 | 1 |
| Thr428Thr | - | - | 1 | 0 | 0 | 1 |
| Intravening sequence variations | ||||||
| IVS3–28 a>g | - | - | 3 | 1 | 9 | 4 |
| IVS7–11 c>t | - | - | 8 | 13 | 63 | 59 |
| IVS7+50 t>c | - | - | 0 | 0 | 3 | 1 |
| IVS10–27 a>g | - | - | 5 | 0 | 6 | 9 |
| IVS11–9 t>c | - | - | 1 | 1 | 0 | 0 |
| IVS11–8 c>t | - | - | 1 | 1 | 0 | 0 |
| IVS11–7 g>t | - | - | 0 | 0 | 2 | 1 |
| IVS12–43 c>t | - | - | 0 | 0 | 2 | 3 |