IthaID: 3888

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: CD 97/98 (+GCAC) HGVS Name: HBB:c.291_294dup
Hb Name: N/A Protein Info: N/A

Context nucleotide sequence:

Protein sequence:

Also known as:

Comments: Found in a mother with a history of transfusion-dependent thalassemia and also in her child presented with anemia and clinical data of thalassemia. The 4 bp insertion (GCAC), causes a frameshift that introduces a premature stop codon four amino acids further down the new reading frame.

External Links

No available links


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


Chromosome: 11
Locus: NG_000007.3
Locus Location: 71015
Size: 4 bp
Located at: β
Specific Location: Exon 2

Other details

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

In silico pathogenicity prediction

Sequence Viewer

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Publications / Origin

  1. Martínez Villegas O, Mendoza-Meléndez D, Trueba-Gómez R, Rosenfeld-Mann F, Baptista-González HA, Estrada-Juárez H, Analysis of a Novel Mexican Variant of the Gene Associated with β-Thalassemia Using Bioinformatic Tools., Hemoglobin, 45(2), 87-93, 2021 PubMed
Created on 2022-01-28 14:00:10, Last reviewed on 2022-08-24 09:24:44 (Show full history)

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