IthaID: 144

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Pathogenic / Likely Pathogenic
Common Name: CD 40 (+86 bp) HGVS Name: HBB:c.123_208dup
Hb Name: N/A Protein Info: N/A

Also known as: HGSA

Comments: This insertion consists of a duplication of the immediately downstream sequence, causing a frameshift and a premature stop codon. The predicted protein sequence carries the first 70 amino- acids of the normal b-globin, followed by 19 mutated aminoacids. The resulting polypeptide is thus 58 aminoacids shorter than the wild type. The boundaries of the insertion were found to carry an imperfect splicing sequence.

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links


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: 70847
Size: 86 bp
Located at: β
Specific Location: Exon 2

Other details

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

In silico pathogenicity prediction

Sequence Viewer

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Publications / Origin

  1. Cabeda JM, Correia C, Estevinho A, Simões C, Amorim ML, Pinho L, Justiça B, Unexpected pattern of beta-globin mutations in beta-thalassaemia patients from northern Portugal., British journal of haematology, 105(1), 68-74, 1999 PubMed
Created on 2010-06-16 16:13:15, Last reviewed on 2020-05-04 13:00:53 (Show full history)

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