IthaID: 4085



Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: CD 132 (+T) HGVS Name: HBA2:c.398dup
Hb Name: Hb Balkh Protein Info: N/A
Also known as:

We follow the HGVS sequence variant nomenclature and IUPAC standards.

Context nucleotide sequence:
TCCCTGGACAAGTTCCTGGCTTCTGT [-/T] GAGCACCGTGCTGACCTCCAAATAC (Strand: +)

Comments: The c.398dup variant (CD 132 GTG>GTTG) [p.Val133fs] is a frameshift mutation in the HBA2 gene, co-inherited with the α⁺ deletional variant -α³.⁷ [IthaID: 300] in a 13-year-old boy from Balkh province, Afghanistan, who has been receiving transfusions since the age of 5. The duplication of 'T' at p.Val133 causes a frameshift, resulting in an elongated α-chain with an additional 30 amino acids (171 in total). The HGVS nomenclature was assigned based on the sequence information provided in the paper.

External Links

Phenotype

Hemoglobinopathy Group: Structural Haemoglobinopathy
Hemoglobinopathy Subgroup: α-chain variant
Allele Phenotype:N/A
Stability: N/A
Oxygen Affinity: N/A
Associated Phenotypes: N/A

Location

Chromosome: 16
Locus: NG_000006.1
Locus Location: 34432
Size: 1 bp
Located at: α2
Specific Location: Exon 3

Other details

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

In silico pathogenicity prediction

Sequence Viewer

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Publications / Origin

  1. Tavassoli S, Chung JH, Panigrahi AR, Shahsavar A, Lal A, Singer ST, Hemoglobin Balkh, a Novel Mutation in Codon 132 of α2-Globin Gene [α132(H15) (+T) or :C.396dup (p.Val134fs)]: A Case Report and Insight into the Pathophysiology., Hemoglobin, 48(4), 280-284, 2024 PubMed

Microattributions

A/AContributor(s)DateComments
1Tavassoli, Shabnam2023-11-29First report.
Created on 2023-12-04 15:18:20, Last reviewed on 2025-03-14 08:58:29 (Show full history)

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