IthaID: 2487



Names and Sequences

Functionality: Globin gene causative mutation
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

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.

External Links

Location

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

Phenotype

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

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
Inheritance: Recessive
DNA Sequence Determined: Yes
Detection Methods: Direct DNA sequencing

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. 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)

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.

Please publish modules in offcanvas position.