IthaID: 3555



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 124 (+C) HGVS Name: HBB:c.374dup
Hb Name: N/A Protein Info: N/A

Context nucleotide sequence:
CCCATCACTTTGGCAAAGAATTCACCC [-/C] ACCAGTGCAGGCTGCCTATCAGAAAG (Strand: -)

Also known as:

Comments: Single nucleotide duplication (+C) generating a frameshift that leads to shortening of the β-globin chain with a stop codon at codon 139 (TAA). Reported in a patient with severe microcytic and hypochromic anaemia.

External Links

No available links

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 71948
Size: 1 bp
Located at: β
Specific Location: Exon 3

Phenotype

Hemoglobinopathy Group: Thalassaemia
Hemoglobinopathy Subgroup: β-thalassaemia
Allele Phenotype:β0
Associated Phenotypes: Haemolytic anaemia [HP:0001878]

Other details

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

Sequence Viewer

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Publications / Origin

  1. Abdaoui W, Benouareth DE, Djenouni A, Renoux C, Grifi F, Gouri A, Athamnia F, Benalioua M, Joly P, Genetic Background of β-Thalassemia in Northeast Algeria with Assessment of the Thalassemia Severity Score and Description of a new β-Thalassemia Frameshift Mutation (: c.374dup; p.Pro126Thrfs*15)., Hemoglobin, 43(0), 223-228, 2019 PubMed
Created on 2020-01-10 08:59:43, Last reviewed on (Show full history)

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