IthaID: 231

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Pathogenic / Likely Pathogenic
Common Name: CD 107 (+G) HGVS Name: HBB:c.323dupG
Hb Name: N/A Protein Info: N/A

Context nucleotide sequence:

Also known as:

Comments: The G duplication at codon 107, causes a frameshift with a terminating codon at codon 139.


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: 71897
Size: 1 bp
Located at: β
Specific Location: Exon 3

Other details

Type of Mutation: Point-Mutation(Insertion)
Effect on Gene/Protein Function: Frameshift (Translation)
Ethnic Origin: African-American, Egyptian, North African, Moroccan
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: No

In silico pathogenicity prediction

Sequence Viewer

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Publications / Origin

  1. Wong C, Dowling CE, Saiki RK, Higuchi RG, Erlich HA, Kazazian HH, Characterization of beta-thalassaemia mutations using direct genomic sequencing of amplified single copy DNA., Nature, 330(6146), 384-6, 1987 PubMed
  2. 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
  3. 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 2021-10-20 14:36:40 (Show full history)

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