IthaID: 3568



Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Pathogenic / Likely Pathogenic
Common Name: CD 28 GCC>-CC HGVS Name: HBA2:c.85delG
Hb Name: N/A Protein Info: N/A

Context nucleotide sequence:
CACGCTGGCGAGTATGGTGCGGAG [-/G] CCCTGGAGAGGTGAGGCTCCCTCC (Strand: +)

Also known as:

Comments: Reported in a proband presenting with persistent microcytosis and hypochromia. The deletion of a nt G from codon 28 creates a shift in the reading frame with a premature stop codon at codon 48 (TGA). Residue 28 at the B helix of the α chain is part of the α1β1 interface, which plays a key role in the maintenance of the tertiary structure.

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

No available links

Phenotype

Hemoglobinopathy Group: Thalassaemia
Hemoglobinopathy Subgroup: α-thalassaemia
Allele Phenotype:α⁺
Associated Phenotypes: N/A

Location

Chromosome: 16
Locus: NG_000006.1
Locus Location: 33860
Size: 1 bp
Located at: α2
Specific Location: Exon 1

Other details

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

In silico pathogenicity prediction

Sequence Viewer

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Publications / Origin

  1. Ropero P, Arbeteta J, Nieto JM, González FA, González B, Villegas A, Benavente C, Nondeletional α-Thalassemia: Two New Mutations on the α2 Gene., Hemoglobin, 2020 PubMed
Created on 2020-02-03 11:50:47, Last reviewed on 2022-09-20 09:28:31 (Show full history)

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