Table 3 of
Shah, Mol Vis 2014; 20:790-796. Table 3 of
Shah, Mol Vis 2014; 20:790-796.
Table 3. Known mutations in the human ADAMTS17 gene.
| Sl. # | Mutation | Exon/ Intron | Nature of the mutation | State of zygosity | Ethnic origin of the family | Reference |
|---|---|---|---|---|---|---|
| 1 | c.2458_2459insG (p.E820Gfs*23) | Exon 18 | Frameshift | Homozygous | Saudi Arabian | [10] |
| 2 | c.1721+1G>A | Intron 12 | Splice site | Homozygous | Saudi Arabian | [10] |
| 3 | c.760C>T (p.Q254*) | Exon 4 | Nonsense | Homozygous | Saudi Arabian | [10] |
| 4 | c.652delG (p.Asp218Thrfs*41) | Exon 4 | Frameshift | Homozygous | Saudi Arabian | [15] |
| 5 | 106.96 Kb Deletion | Exon 1–3 | Deletion | Homozygous | Tunisian | [18] |
| 6 | c.873+1G>T | Intron 5 | Splice site | Homozygous | Indian | Present study |