Table 2 Summary of genetic variation in familial aniridic patients
From: Identification of novel mutant PAX6 alleles in Indian cases of familial aniridia
S No | Systematic Name | Codon | Exon/Intron | Domain | Common Name patient ID | Type of Mutation | Interpretation | Gene bank Accession No. |
|---|---|---|---|---|---|---|---|---|
01 | c.1080 C>T | R240X | exon 9 | Homeodomain | ANF/6-1 female | Premature termination | Arginine to stop codon | -- |
03 | c.1174del TG | 271 | exon 10 | PST region | ANF/2-1 female | Deletion | Novel mutation | DQ251040 |
05 | c.710del C | 116 | exon 6 | Paired domain | ANF/7-1 male | Deletion | Novel mutation | DQ251039 |
07 | c.406delTT | 15 | exon 5 | Paired domain | ANF9-1female | Deletion | Novel mutation | DQ251038 |
09 | c.393ins5 | 11 | exon 5 | Paired domain | ANF8-1 male | Insertion | Novel mutation | DQ251037 |