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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
  1. NA not available