IthaID: 2538
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Pathogenic / Likely Pathogenic |
|---|---|---|---|
| Common Name: | CD 25 GGT>GAT [Gly>Asp] | HGVS Name: | HBA2:c.77G>A |
| Hb Name: | Hb Cibeles | Protein Info: | α2 25(B6) Gly>Asp |
| Also known as: |
We follow the
HGVS sequence variant nomenclature
and
IUPAC standards.
Context nucleotide sequence:
GGTCGGCGCGCACGCTGGCGAGTATG [G/A] TGCGGAGGCCCTGGAGAGGTGAGGCTC (Strand: +)
Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYDAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR
Comments: Found in a heterozygous state. In the Hb Cibeles, an apolar amino acid [Gly] is replaced by a negatively charged amino acid [Asp], leading to an unastable Hb molecule.
External Links
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: | Haemolytic anaemia [HP:0001878] |
Location
| Chromosome: | 16 |
|---|---|
| Locus: | NG_000006.1 |
| Locus Location: | 33852 |
| Size: | 1 bp |
| Located at: | α2 |
| Specific Location: | Exon 1 |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | Missense codons (Protein Structure) |
| Ethnic Origin: | Ethiopian |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | Yes |
In silico pathogenicity prediction
Publications / Origin
- de la Fuente-Gonzalo F, Nieto JM, Vinuesa L, Sevilla J, Díaz-Mediavilla J, Villegas A, González FA, Ropero P, Hb Cibeles [α2 CD25(B6) (Gly → Asp)]: a novel alpha chain variant causing alpha-thalassemia., Int. J. Hematol. , 2014
Created on 2014-10-10 10:35:09,
Last reviewed on 2019-04-04 16:08:28 (Show full history)
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