Table 1 Characterization of the variants identified in the families with HB
From: Defining the molecular pathology and consequent phenotypes in Egyptian HB patients
Patients ID | Nucleotide change NM_000133.3 | Location | Amino acid change NP_000124.1 | Mutation effect | Severity | Domain | Citation |
|---|---|---|---|---|---|---|---|
HB-1 | c.676 C>G | Exon 6 | p.Arg226Gly | Missense | Moderate | Activation peptide | 6 |
HB-2 | c.676 C>G | Exon 6 | p.Arg226Gly | Missense | Moderate | Activation peptide | 6 |
HB-3 | c.1305 T>G | Exon 8 | p.Cys435Trp | Missense | Mild | Serine protease | 2 |
HB-4 | c.880 C>T | Exon 8 | p. Arg294* | Nonsense | Severe | Serine protease | 70 |
HB-4.1 | c.880 C>T | Exon 8 | p. Arg294* | Nonsense | Severe | Serine protease | 70 |
HB-4.2 | c.880 C>T | Exon 8 | p. Arg294* | Nonsense | Severe | Serine protease | 70 |
HB-4.3 | c.880 C>T | Exon 8 | p. Arg294* | Nonsense | Severe | Serine protease | 70 |
HB-5 | c.880 C>T | Exon 8 | p. Arg294* | Nonsense | Severe | Serine protease | 70 |
HB-5.1 | c.880 C>T | Exon 8 | p. Arg294* | Nonsense | Severe | Serine protease | 70 |
HB-5.2 | c.880 C>T | Exon 8 | p. Arg294* | Nonsense | Severe | Serine protease | 70 |
HB-6 | c.880 C>T | Exon 8 | p. Arg294* | Nonsense | Severe | Serine protease | 70 |
Carrier mother-7 | c.1150 C>T | Exon 8 | p. Arg384* | Nonsense | NA | Serine protease | 5 |