IthaID: 3563



Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Pathogenic / Likely Pathogenic
Common Name: CD 126 GTG>-TG HGVS Name: HBB:c.379delG
Hb Name: N/A Protein Info: p.Val127Cysfs*32

Context nucleotide sequence:
CTTTGGCAAAGAATTCACCCCACCA [-/G] TGCAGGCTGCCTATCAGAAAGTGGT (Strand: -)

Also known as:

Comments: Reported as a de novo mutation in a heterozygous carrier presenting with mild β-thalassaemia intermedia phenotype. Both his parents had normal β gene analysis. The proband had hemolytic anaemia with splenomegaly and his bone marrow showed erythroid hyperplasia and dyserythropoiesis resembling congenital dyserythropoietic anaemia (CDA). The loss of a nt G from codon 126 results in a frameshift and the elongation of the β-globin chain to 156 amino acids (157 aa is "TAA").

External Links

No available links

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 71953
Size: 1 bp
Located at: β
Specific Location: Exon 3

Phenotype

Hemoglobinopathy Group: Thalassaemia
Hemoglobinopathy Subgroup: β-thalassaemia
Allele Phenotype:Dominant
Associated Phenotypes: Haemolytic anaemia [HP:0001878]
Ineffective erythropoiesis [HP:0010972]

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: Frameshift (Translation)
Ethnic Origin: Turkish
Molecular mechanism: N/A
Inheritance: Dominant
DNA Sequence Determined: Yes

Sequence Viewer

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Publications / Origin

  1. Gürlek-Gökçebay D, Akpinar-Tekgunduz S, Erdem HB, Yarali N, A Heterozygous Variant (: c.379delG, p.Val127Cysfs*32) Associated with a Mild β-Thalassemia Intermedia Phenotype in a Turkish Child., Hemoglobin, 43(0), 277-279, 2019 PubMed
Created on 2020-01-31 12:46:24, Last reviewed on 2020-01-31 12:47:49 (Show full history)

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