IthaID: 254

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Pathogenic / Likely Pathogenic
Common Name: CD 127 CAG>CGG [Gln>Arg] HGVS Name: HBB:c.383A>G
Hb Name: Hb Dieppe Protein Info: β 127(H5) Gln>Arg

Context nucleotide sequence:

Protein sequence:

Also known as:


Hemoglobinopathy Group: Thalassaemia and Structural Haemoglobinopathy
Hemoglobinopathy Subgroup: β-thalassaemia, β-chain variant
Allele Phenotype:β0
Thalassaemia dominant
Stability: Unstable
Oxygen Affinity: N/A
Associated Phenotypes: Haemolytic anaemia [HP:0001878]
Ineffective erythropoiesis [HP:0010972]


Chromosome: 11
Locus: NG_000007.3
Locus Location: 71957
Size: 1 bp
Located at: β
Specific Location: Exon 3

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: Missense codons (Protein Structure)
Ethnic Origin: French, Chinese
Molecular mechanism: N/A
Inheritance: Dominant
DNA Sequence Determined: Yes

In silico pathogenicity prediction

Sequence Viewer

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Publications / Origin

  1. Girodon E, Ghanem N, Vidaud M, Riou J, Martin J, Galactéros F, Goossens M, Rapid molecular characterization of mutations leading to unstable hemoglobin beta-chain variants., Annals of hematology, 65(4), 188-92, 1992 PubMed
  2. Chen HQ, Wu LS, Jiang F, Li DZ, Dominant β-Thalassemia Phenotype Caused by Hb Dieppe (: c.383A>G): Another Case Report., Hemoglobin, 45(5), 329-331, 2021 PubMed
Created on 2010-06-16 16:13:15, Last reviewed on 2022-10-06 14:47:00 (Show full history)

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