IthaID: 3286

Names and Sequences

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

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

External Links

No available links


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


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

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: Nonsense codon (Translation)
Ethnic Origin: Chinese
Inheritance: Recessive
DNA Sequence Determined: Yes
Detection Methods: Direct DNA sequencing

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
Created on 2017-12-19 16:56:13, Last reviewed on (Show full history)

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