IthaID: 2487

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Pathogenic / Likely Pathogenic
Common Name: CD 31 AGG>GGG [Arg>Gly] HGVS Name: HBA2:c.94A>G
Hb Name: Hb Maranon Protein Info: α2 31(B12) Arg>Gly

Also known as:

Comments: This mutation causes the activation of a cryptic splice site located 49 bp upstream of the exon1-intron1 boundary in both HBA2 long and short isoforms, thus generating a frameshift and a premature termination codon between codons 48 and 49 in the second exon. In Hb Maranon, instability is due to the substituted Arg residue at position 12 of the B helix of the alpha2-globin chain that seems to alter the hydrophobic environment required for the distal heme binding, causing an alpha-thalassemia phenotype.

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: Hyperunstable
Oxygen Affinity: N/A
Associated Phenotypes: N/A


Chromosome: 16
Locus: NG_000006.1
Locus Location: 33869
Size: 1 bp
Located at: α2
Specific Location: Exon 1

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: Cryptic splice site (mRNA Processing), Missense codons (Protein Structure)
Ethnic Origin: Indian
Molecular mechanism: Altered α1β1 interface
Inheritance: Recessive
DNA Sequence Determined: Yes

In silico pathogenicity prediction

Sequence Viewer

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Publications / Origin

  1. Qadah T, Finlayson J, Joly P, Ghassemifar R, Molecular and cellular analysis of a novel HBA2 mutation (HBA2: c.94A > G) shows activation of a cryptic splice site and generation of a premature termination codon., Hemoglobin , 38(1), 13-8, 2014 PubMed
  2. de la Fuente-Gonzalo F, Nieto JM, Ricard P, Anguita J, Martínez R, Cervera A, Villegas A, González FA, Ropero P, Hb Cervantes, Hb Marañón, Hb La Mancha and Hb Goya: Description of 4 new haemoglobinopathies., Clin. Biochem. , 48(10), 662-7, 2015 PubMed
Created on 2014-06-04 16:23:14, Last reviewed on 2017-05-30 09:56:13 (Show full history)

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