Table 2.
The spectrum of SERPING1 variants in Belarus patients
| Number of affected patients | cDNA change (NM_000062.2) | Predicted effect on protein | ENST00000278407.8 | Exon | Variant type | PolyPhen2° |
|---|---|---|---|---|---|---|
| 1 | c.5C > T | p.Ala2Val | rs185342631 | 2 | Missense | 0.987 |
| 2 | c.51 + 3A > G | CS053487 | 2 | Splicing | ||
| 3 | c.249delT | p.Asp84Metfs*64 | 3 | Frameshift | ||
| 1 | c.289C > T | p.Gln97S* | CM128686 | 3 | Nonsense | |
| 1 | c.301C > T | p.Gln101* | 3 | Nonsense | ||
| 1 | c. 387_388delCT | p. Leu129Leufs131*2 | 3 | Frameshift | ||
| 1 | c.520_524del ATCGC | p.Ile174Glnfs254*81 | 3 | Frameshift | ||
| 7 | c.550 + 2 T > C | rs112666115 | 3 | Splicing | ||
| 2 | c.551-2A > C | rs113574262 | 4 | Splicing | ||
| 2 | c.551-1G > A | 4 | Splicing | |||
| 6 | c.551-1G > C | 4 | Splicing | |||
| 3 | del exon 4 | 4 | Large del | |||
| 2 | c.744_745delCA | p.Arg249Serfs*7 | 5 | Frameshift | ||
| 2 | c.890-2A > G | D0077: g.9903 A → G | 6 | Splicing | ||
| 1 | c.1001A > C | p.His334Pro | 6 | Missense | 0.969 | |
| 1 | c.1037A > C | p.Gln346Pro | 7 | Missense | 0.996 | |
| 4 | c.1058 T > C | p.Leu353Pro | 7 | Missense | 1 | |
| 2 | c.1106delA | p.Asp369Alafs*28 | CD033556 | 7 | Frameshift | |
| 1 | c. 1202 T > C | p.Ile401Thr | 7 | Missense | 0.949 | |
| 5 | c.1293delA | p.Glu432Argfs*18 | 8 | Frameshift | ||
| 7 | c.1396C > Ta | p.Arg466Cys | rs28940870 | 8 | Missense | 0.921 |
| 3 | c.1397G > Aa | p.Arg466His | rs121907948 | 8 | Missense | 0.66 |
| 5 | c.1478G > A | p.Gly493Glu | CM022845 | 8 | Missense | 1 |
| 1 | c.1493C > T | p.Pro498Leu | 8 | Missense | 1 |
Gray filling specifies variants that have not been previously reported. Variants are described according to the HGVS-nomenclature (https://varnomen.hgvs.org). avariant associated with C1-INH-HAE type II