IthaID: 3286

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Pathogenic / Likely Pathogenic
Common Name: CD 61 AAG>TAG [Lys>STOP] HGVS Name: HBA2:c.184A>T
Hb Name: N/A Protein Info: N/A

Also known as:

Comments: The mutation causes a premature termination of translation, likely leading to nonsense-mediated degradation mRNA or a truncated and unstable protein product.

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

No available links


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


Chromosome: 16
Locus: NG_000006.1
Locus Location: 34076
Size: 1 bp
Located at: α2
Specific Location: Exon 2

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: Nonsense codon (Translation)
Ethnic Origin: Chinese
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: Yes

In silico pathogenicity prediction

Sequence Viewer

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Publications / Origin

  1. Liang Y, Peng Q, Li M, Li S, Li W, Lu X, A Novel α-Thalassemia Nonsense Mutation on the α2-Globin Gene: HBA2: c.184A>T., Hemoglobin , 2017 PubMed
  2. Tian Q, Lei YL, Xu LL, Li DZ, First Report of Nondeletional Hb H Disease Caused by an α2-Globin Gene Mutation: : c.184A>T., Hemoglobin, 45(3), 210-211, 2021 PubMed
Created on 2017-12-19 16:56:13, Last reviewed on 2022-08-24 11:04:55 (Show full history)

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