Skip to main content
. 2014 Oct 2;9(10):e108683. doi: 10.1371/journal.pone.0108683

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.