IthaID: 2960



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 46/47 (+G) HGVS Name: HBB:c.142_142dupG
Hb Name: N/A Protein Info: β 47(+G); modified C-terminal sequence: (47)Gly-Ser-Val-His-Ser-(52)COOH

Comments: Found as a heterozygote with an alpha anti-3.7 kb quadruplication. This frameshift results in the termination of translation at codon 52 (TGA). Affected probands had high levels of Hb F (4.8% and 9.1%).

External Links

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 70866
Size: 1 bp
Located at: β
Specific Location: Exon 2

Phenotype

Hemoglobinopathy Group: Thalassaemia
Hemoglobinopathy Subgroup: β-thalassaemia
Allele Phenotype:β0
Associated Phenotypes: N/A

Other details

Type of Mutation: Point-Mutation(Insertion)
Effect on Gene/Protein Function: Frameshift (Translation)
Ethnic Origin: Italian
Inheritance: Recessive
DNA Sequence Determined: Yes
Detection Methods: Direct DNA sequencing

Sequence Viewer

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Frequencies

Publications / Origin

  1. Divoka M, Partschova M, Kucerova J, Mojzikova R, Cermak J, Pospisilova D, Fabryova V, Prochazkova D, Indrak K, Divoky V, Molecular Characterization of β-Thalassemia in the Czech and Slovak Populations: Mediterranean, Asian and Unique Mutations., Hemoglobin , 40(3), 156-62, 2016 PubMed
Created on 2016-08-23 12:05:03, Last reviewed on 2016-09-06 16:03:21 (Show full history)

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