IthaID: 261

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Pathogenic / Likely Pathogenic
Common Name: CD 131-134 (-11bp) >134aa HGVS Name: HBB:c.396_406del
Hb Name: N/A Protein Info: N/A

Also known as:

Comments: The 11bp deletion is predicted to produce a truncated β-chain of 134 amino acids instead of the normal 146.

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

No available links


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


Chromosome: 11
Locus: NG_000007.3
Locus Location: 71970
Size: 11 bp
Located at: β
Specific Location: Exon 3

Other details

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

In silico pathogenicity prediction

Publications / Origin

  1. Ropero P, Villegas A, Martínez M, Ataulfo González Fernández F, Benavente C, Mateo M, A deletion of 11 bp (CD 131-134) in exon 3 of the beta-globin gene produces the phenotype of inclusion body beta-thalassemia., Annals of hematology, 84(9), 584-7, 2005
Created on 2010-06-16 16:13:15, Last reviewed on 2021-10-20 13:23:49 (Show full history)

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