IthaID: 3403

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Pathogenic / Likely Pathogenic
Common Name: CD 39 +A HGVS Name: HBA2:c.118_119insA
Hb Name: N/A Protein Info: α2 39(+A); modified C-terminal sequence: (39)Asn-Gln-Asp-Leu-Leu-Pro-Ala-Leu-Arg-Pro- Glu-Pro-Arg-Leu-Cys-Pro-Gly-(56)COOH

Context nucleotide sequence:

Also known as:

Comments: Insertion of 'A' within codon 39 (AACC) of α2 gene. Frameshift mutation at the beginning of exon 2 which certainly activates the nonsense mediated decay mecanism. No protein expression.

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links


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


Chromosome: 16
Locus: NG_000006.1
Locus Location: 37814
Size: 1 bp
Located at: α2
Specific Location: Exon 2

Other details

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

In silico pathogenicity prediction

Publications / Origin

To the best of our knowledge, this is unpublished data. Please use with caution!

Created on 2019-04-11 16:48:58, Last reviewed on (Show full history)

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