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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