Table 2.
SERPING1 variants in patients with HAE-1/2
| No. of patients | cDNA numbering | Location | Effect on protein | Type of HAE | C1-INH level (g/L) | C1-INH Function (%) |
|
|---|---|---|---|---|---|---|---|
| 1 | NM_000062.2 | c.1346T > C | Exon 8 | p. Leu449Pro | HAE-1 | 0.04 | 0.0 |
| 2 | c.1232 C > G | Exon 7 | p.Ser411Ter | 0.073 | 0.2 | ||
| 3 | c.1291 A > C | Exon 8 | p.Thr431Pro | 0.04 | 0.0 | ||
| 4 | Loss | Exon 2–8 | 16,312 bp loss | 0.061 | 0.0 | ||
| 5 | c.1327 C > A | Exon 7 | p.His443Asn | 0.063 | 12.6 | ||
| 6 | c.1327 C > A | Exon 7 | p.His443Asn | 0.06 | 20.1 | ||
| 7 | c.1427 C > T | Exon 8 | p.Pro476Leu | 0.07 | 8.6 | ||
| 8 | c.1027 A > T | Exon 6 | p.Lys343* | 0.06 | 0.0 | ||
| 9 | c.1048_1049del | Exon 6 | p.Ser350Profs*18 | 0.06 | 1.7 | ||
| 10 | NC_000011.9 | g.57363946_57372945del | Intron | / | 0.08 | 0.0 | |
| 11 | NM_000062.2 | c.1396 C > T | Exon 8 | p.Arg466Cys | HAE-2 | 0.82 | 0.4 |
| 12 | c.1114 C > T | Exon 7 | p.Gln372* | 0.28 | 0.0 | ||
*The normal range for C1-INH levels is 0.21–0.39 g/L, and normal C1-INH function is defined as equal to or greater than 68%
* Patient 12 was detected to harbor both SERPING1 and MYOF (NM_013451.4:c.548 C > T, p.Thr183lle) gene variants