Table 5. Mutations in Indian patients with Factor VII deficiency.
Sr. no. | Patient nos. | Exon | Nucleotide change | Mutation | Comments | Polymorphisms | References |
1 | 1 | 8 | c.G904A | p.Asp302Asn | Heterozygous | - | [12] |
2 | 8 | c.A1223G | p.His408Arg | Heterozygous | - | ||
3 | 1 | 8 | c.C859T | §$p.Gln287* | Homozygous | - | [11] |
4 | 2,9 | 1a | §$p.Leu55fs | - | - | ||
5 | 3 | 2 | c.C175T | § p.Arg59Cys | Homozygous | - | |
6 | 4,8 | 7 | c.C752A | § p.Ala251Glu | Homozygous | - | |
7 | 5,6,7 | 8 | c.C1324T | p.Gln442* | - | — | |
8 | 8 | 8 | c.G1272C | p.Trp424Cys | Homozygous | - | |
9 | 10 | 5 | c.G529C | p.Gly177Arg | Homozygous | - | |
10 | 11 | 6 | c.G635A | p.Arg212Gln | Homozygous | - | |
11 | 1 | 2 | c.T244C | p.Cys82Arg | - | - | [13] |
12 | 6 | c.G751C | §p.Ala251Pro | - | - | ||
13 | 2,3 | 6 | c.G635A | p.Arg212Gln | - | - | |
14 | 4 | 8 | c.T968G | §p.Leu323Arg | Heterozygous | c.G10976A p.Arg413His Homo | |
15 | 5 | 6 | c.G529C | p.Gly177Arg | - | c.G10976A p.Arg413His Homo | |
c.T968G | §p.Leu323Arg | Heterozygous | - | ||||
16 | 6 | 6 | c.C1194G | §p.Asp398Glu | - | - | |
17 | 7 | 8 | c.G1109T | p.Cys370Phe | - | - | |
18 | 8 | 8 | c.C1151T | p.Thr384Met | - | c.7880T p.His175His Homo | |
9 | 8 | c.C1151T | p.Thr384Met | - | - | ||
19 | 10 | 6 | c.T593C | §p.Ile198Thr | - | c.G10976A p.Arg413His Homo | |
8 | c.T968G | §p.Leu323Arg | Heterozygous | - | |||
11,12 | 8 | c.G1109T | p.Cys370Phe | - | c.T122C,c.G73A promoter | ||
20 | 13 | 8 | c.A1223G | p.His408Arg | |||
21 | 14 | 8 | c.T1030C | §p.Trp344Arg | Heterozygous | c.C7880T p.His175His Homo | |
- | - | - | c.G10976A p.Arg413His Homo |
Novel variations, $ Common variations.