Table 2. Mutations found in Serbian patients with C1-INH-HAE.
| Traditional genomic numbering | cDNA numbering | Position | Predicted effect on protein (traditional numbering) | No. of families | No. of patients | Reference | Mutation group 1 |
|---|---|---|---|---|---|---|---|
| g.8313A>G | c.686−12A>G | Intron 4 | Splicing defect | 1 | 1 | 10 | 1 |
| g.4471T>G | c.671T>G | Exon 4 | Ile202Ser | 1 | 1 | 17 | 2 |
| g.2445C>T | c.300C>T | Exon 3 | Gln79Stop | 1 | 3 | This study | 1 |
| g.14196C>T | c.1195C>T | Exon 7 | Pro377Ser | 4 | 12 | 15 | 2 |
| g.2694G>A | c.550G>A | Exon 3 | Splicing defect or Gly162Arg | 2 | 2 | 14 | 2 |
| g.16788C>T | c.1396C>T | Exon 8 | Arg444Cys | 3 | 5 | 24 | 1 |
| g.2644T>G | c.500T>G | Exon 3 | Met145Arg | 2 | 2 | 18 | 2 |
| g.2212_2213delAT | c.74_75delAT | Exon 3 | Frameshift | 1 | 1 | 21 | 1 |
| g.14244A>G | c.1223A>G | Exon 7 | Asp386Gly | 1 | 1 | 19 | 2 |
| g.2490C>T | c.345C>T | Exon 3 | Gln94Stop | 1 | 1 | 7 | 1 |
| Deletion of exons 5 to 8 | 1 | 1 | 18 | 1 | |||
| g.4351G>A | c.552G>A | Exon 4 | Gly162Glu | 1 | 1 | 16 | 2 |
| g.14185_14186insTA | c.1184_1185insTA | Exon 7 | Frameshift | 1 | 3 | This study | 1 |
| g.564G>A | c.-22-1G>A | Intron 1 | Splicing defect | 1 | 1 | 14 | 1 |
| g.4400delC | c.610delC | Exon 4 | Frameshift | 1 | 1 | 14 | 1 |
| g.17997C>T | c.1423C>T | Exon 8 | Gln453Stop | 1 | 1 | 13 | 1 |
| Deletion of exon 4 | 1 | 1 | 17 | 1 | |||
| g.15297C>T | c.1114C>T | Exon 7 | Gln350Stop | 1 | 2 | 17 | 1 |
| g.18054C>T | c.1480C>T | Exon 8 | Arg472Stop | 1 | 1 | 14 | 1 |
| g.3615C>T | c.289C>T | Exon 3 | Gln75Stop | 1 | 3 | 12 | 1 |
New mutations are in boldface type.
1Group 1 (nonsense, frameshift, large deletions/insertions, splicing defect, and mutations at Arg444) or group 2 mutations (missense mutations, excluding mutations at Arg444).