Table 1 of
Neethirajan, Mol Vis 2003;
9:205-209.Table 1 of
Neethirajan, Mol Vis 2003;
9:205-209.
Table 1. Clinical data and phenotype of subjects with PAX6 mutations
Table summarising clinical data and phenotypes of subjects with PAX6 mutations. Both patients had bilateral cataracts, bilateral glaucoma, nystagmus, and aniridia. The term HD refers to Homeodomain and PST refers to proline serine and threonine region. The letter R refers to Arginine and N refers to Asparagine.
Predicted
DNA Macular outcome of
Patient Status Sex Exon Outcome Codon Domain hypoplasia the mutation
------- -------- --- ---- ---------- ----- ------ ---------- --------------
23-1 sporadic M 9 c.1080 C>T R240 HD - - Nonsense
Arginine to
stop codon
14-1 sporadic M 10 c.1180insA N273 PST + + Frame shift by
insertion of a
nucleotide at
position 1180
in exon 10
results in
premature
termination
|