IthaID: 3281

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Pathogenic / Likely Pathogenic
Common Name: CD 130 (+T) HGVS Name: HBA1:c.393_394insT
Hb Name: Hb Sichuan Protein Info: N/A

Also known as:

Comments: The insertion of a thymidine (T) between codons 130 and 131 disrupts the normal reading frame after codon 131 inducing an in-phase stop codon 133 residues downstream, resulting in an extended α-globin chain with an extra 34 amino acids. It is responsible for a severe anaemia phenotype when combined with an α0-thal mutation.

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

No available links


Hemoglobinopathy Group: Thalassaemia and Structural Haemoglobinopathy
Hemoglobinopathy Subgroup: α-thalassaemia, α-chain variant
Allele Phenotype:α⁺
Stability: N/A
Oxygen Affinity: N/A
Associated Phenotypes: Haemolytic anaemia [HP:0001878]


Chromosome: 16
Locus: NG_000006.1
Locus Location: 38238
Size: 1 bp
Located at: α1
Specific Location: Exon 3

Other details

Type of Mutation: Point-Mutation(Insertion)
Effect on Gene/Protein Function: Frameshift (Translation)
Ethnic Origin: Chinese
Molecular mechanism: Disrupted AHSP binding
Inheritance: Recessive
DNA Sequence Determined: Yes

In silico pathogenicity prediction

Sequence Viewer

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Publications / Origin

  1. Jiang H, Huang LY, Zhen L, Jiang F, Li DZ, Two α1-Globin Gene Point Mutations Causing Severe Hb H Disease., Hemoglobin , 2017 PubMed
Created on 2017-12-11 19:33:12, Last reviewed on 2017-12-13 16:45:09 (Show full history)

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