Table 1. Mutations in Indian patients with fibrinogen deficiency.
Sr. no. | Patient nos. | Gene/Location | Nucleotide change | Amino acid change | Comments | References |
1 | 1 | FGB, Exon 7 | c.1241delG | §p.Gly414fs*2 | Homozygous | [4] |
2 | 2,12,24,25,26,27 | FGA | §$c.G364+1A | - | Homozygous | |
3 | 3,4,5,6,8,13,19,22 | FGG, Exon 6 | $c.554delA | $p.Lys185fs*13 | Homozygous | |
4 | 7 | FGB, Exon 6 | c.G862A | §p.Gly288Ser | Homozygous | |
5 | 9 | FGA, Exon 4 | c.C381A | § p.Tyr127* | Homozygous | |
6 | 10 | FGA, Exon 5 | c.1725delA | §p.Lys575fs*74 | Homozygous | |
7 | 11,23 | FGB, Exon 8 | c.G1334C | §p.Arg445Thr | Homozygous | |
8 | 14 | FGA, Exon 5 | c.1398delT | §p.Thr466fs*17 | Homozygous | |
9 | 15 | FGG, Exon 6 | c.243delA | §p.Ser81fs*5 | Homozygous | |
10 | 16 | FGG, Exon 7 | c.834_835delCT | §p.Asp278–279fs*17 | Homozygous | |
11 | 17 | FGB | §c.G851+1A | - | Homozygous | |
12 | 18 | FGA, Exon 5 | c.786_789delGAGA | p.Glu262–263fs*158 | Homozygous | |
13 | 20 | FGA, Exon 5 | c.887_894dup7 | §p.Asp296fs*59 | Homozygous | |
14 | 21 | FGA | §c.T510+2G | - | Homozygous | |
15 | 28 | FGB, Exon 8 | c.G8017A | §,p.Gly434Asp | Homozygous | [5] |
Novel variations, $ Common variations.