IthaID: 138

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Pathogenic / Likely Pathogenic
Common Name: CD 37 (TGG>TAG) HGVS Name: HBB:c.113G>A
Hb Name: N/A Protein Info: N/A

Context nucleotide sequence:

Protein sequence:

Also known as:


Hemoglobinopathy Group: Thalassaemia
Hemoglobinopathy Subgroup: β-thalassaemia
Allele Phenotype:β0
Associated Phenotypes: Haemolytic anaemia [HP:0001878]
Ineffective erythropoiesis [HP:0010972]


Chromosome: 11
Locus: NG_000007.3
Locus Location: 70837
Size: 1 bp
Located at: β
Specific Location: Exon 2

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: Nonsense codon (Translation)
Ethnic Origin: Afghanistani, Chinese
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: Yes


Publications / Origin

  1. Xu X, Liao C, Liu Z, Li J, Peng Z, Qiu LL, Zhang J, A novel amber mutation in a beta zero-thalassaemia gene (beta 37TGG-->TAG), with direct detection by mapping the restriction fragments in amplified genomic DNA., British journal of haematology, 90(4), 960-2, 1995
  2. Kornblit B, Taaning P, Birgens H, Beta-thalassemia due to a novel nonsense mutation at codon 37 (TGG-->TAG) found in an Afghanistani family., Hemoglobin, 29(3), 209-13, 2005
Created on 2010-06-16 16:13:15, Last reviewed on 2013-10-15 17:28:32 (Show full history)

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