IthaID: 2487
Names and Sequences
Functionality: | Globin gene causative mutation | Pathogenicity: | Pathogenic / Likely Pathogenic |
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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
Phenotype
Hemoglobinopathy Group: | Thalassaemia and Structural Haemoglobinopathy |
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Hemoglobinopathy Subgroup: | α-thalassaemia, α-chain variant |
Allele Phenotype: | α⁺ |
Stability: | Hyperunstable |
Oxygen Affinity: | N/A |
Associated Phenotypes: | N/A |
Location
Chromosome: | 16 |
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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) |
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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
Note:
The impact thresholds provided in this section are based on the analyses performed in Tamana et.al. For any given tool, the impact thresholds defined for the set of variants with the same effect on function as the variant examined, are preferred over those defined for the full dataset.
Sequence Viewer
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Publications / Origin
- 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
- 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)
A/A | Date | Curator(s) | Comments |
---|---|---|---|
1 | 2014-06-04 16:23:14 | The IthaGenes Curation Team | Created |
2 | 2016-08-23 10:09:57 | The IthaGenes Curation Team | Reviewed. Update of mutation comment section. Update of protein information, including addition of variant name. Structural Hb variant field checked and phenotype information added. |
3 | 2016-08-24 14:08:07 | The IthaGenes Curation Team | Reviewed. |
4 | 2016-09-09 11:50:31 | The IthaGenes Curation Team | Reviewed. Reference added. |
5 | 2017-05-08 11:35:22 | The IthaGenes Curation Team | Reviewed. Protein info added. |
6 | 2017-05-30 09:56:13 | The IthaGenes Curation Team | Reviewed. Protein info section updated. |
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IthaGenes was last updated on 2024-09-28 12:00:32