IthaID: 394

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Pathogenic / Likely Pathogenic
Common Name: CD 103 CAC>CTC [His>Leu] HGVS Name: HBA2:c.311A>T
Hb Name: Hb Bronovo Protein Info: α2 103(G10) His>Leu

Context nucleotide sequence:

Protein sequence:

Also known as:

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External 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: N/A


Chromosome: 16
Locus: NG_000006.1
Locus Location: 34345
Size: 1 bp
Located at: α2
Specific Location: Exon 3

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: Missense codons (Protein Structure)
Ethnic Origin: Turkish
Molecular mechanism: Altered α1β1 interface
Inheritance: Recessive
DNA Sequence Determined: Yes

In silico pathogenicity prediction

Sequence Viewer

Note: The NCBI Sequence Viewer is not installed on the ITHANET servers but it is embedded in this page from the NCBI. Therefore, IthaGenes has no responsibility over any temporary unavailability of the service. In such a case, please Refresh the page or retry at a later stage. Otherwise, use this external link.

Publications / Origin

  1. Harteveld CL, Steen G, Vlasveld LT, van Delft P, Giordano PC, Hb Bronovo, a new globin gene mutation at alpha2 103 (His->Leu) associated with an alpha thalassemia phenotype., Haematologica, 91(4), 570-1, 2006 PubMed
  2. Mehta N, Johnston JM, Hein M, Kipp BR, Coon L, Savedra ME, Hoyer JD, He R, Rangan A, Shi M, Oliveira JL, Further Characterization of Hb Bronovo [α103(G10)His→Leu; : c.311A>T] and First Report of the Homozygous State., Hemoglobin, 44(3), 174-178, 2020 PubMed
Created on 2010-06-16 16:13:15, Last reviewed on 2020-08-21 11:25:17 (Show full history)

Disclaimer: The information on this website is provided as an information resource only and must not to be used as a substitute for professional diagnosis and treatment. The ITHANET Portal and IthaGenes are not responsible or liable for any advice, course of treatment, diagnosis or any other information, services or products that an individual obtains through this website.