IthaID: 144



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 40 (+86 bp) HGVS Name: HBB:c.121_122ins86
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.

External Links

No available links

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 70845
Size: 86 bp
Located at: β
Specific Location: Exon 2

Phenotype

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: Portuguese
Inheritance: Recessive
DNA Sequence Determined: No
Detection Methods: Direct DNA sequencing

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 2018-04-25 11:53:03 (Show full history)

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