IthaID: 231

Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 106/107 (+G) HGVS Name: HBB:c.321_322insG
Hb Name: N/A Protein Info: N/A

Context nucleotide sequence:

External Links


Chromosome: 11
Locus: NG_000007.3
Locus Location: 71895
Size: 1 bp
Located at: β
Specific Location: Exon 3


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

Other details

Type of Mutation: Point-Mutation(Insertion)
Effect on Gene/Protein Function: Frameshift (Translation)
Ethnic Origin: African-American, Egyptian
Inheritance: Recessive
DNA Sequence Determined: No
Detection Methods: Direct DNA sequencing

Sequence Viewer

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Publications / Origin

  1. Hussein IR, Temtamy SA, el-Beshlawy A, Fearon C, Shalaby Z, Vassilopoulos G, Kazazian HH, Molecular characterization of beta-thalassemia in Egyptians., Human mutation, 2(1), 48-52, 1993 PubMed
  2. Wong A, Alder V, Robertson D, Papadimitriou J, Maserei J, Berdoukas V, Kontoghiorghes G, Taylor E, Baker E, Liver iron depletion and toxicity of the iron chelator deferiprone (L1, CP20) in the guinea pig., Biometals : an international journal on the role of metal ions in biology, biochemistry, and medicine, 10(4), 247-56, 1997 PubMed
Created on 2010-06-16 16:13:15, Last reviewed on 2013-10-15 17:28:32 (Show full history)

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