IthaID: 356
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Pathogenic / Likely Pathogenic |
|---|---|---|---|
| Common Name: | CD 29 CTG>CCG [Leu>Pro] | HGVS Name: | HBA2:c.89T>C |
| Hb Name: | Hb Agrinio | Protein Info: | α2 29(B10) Leu>Pro |
Context nucleotide sequence:
GCTGGCGAGTATGGTGCGGAGGCCC [C/T] GGAGAGGTGAGGCTCCCTCCCCTGC (Strand: +)
Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEAPERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR
Also known as:
Comments: This mutation results in an α+ allele. The severe phenotype of homozygotes suggests that this variant is extremely unstable.
We follow the HGVS sequence variant nomenclature and IUPAC standards.
Phenotype
| 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: | Haemolytic anaemia [HP:0001878] |
Location
| Chromosome: | 16 |
|---|---|
| Locus: | NG_000006.1 |
| Locus Location: | 33864 |
| 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: | Greek, Mediterranean, Romani |
| Molecular mechanism: | Altered secondary structure |
| 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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Frequencies
Publications / Origin
- Hall GW, Thein SL, Newland AC, Chisholm M, Traeger-Synodinos J, Kanavakis E, Kattamis C, Higgs DR, A base substitution (T-->C) in codon 29 of the alpha 2-globin gene causes alpha thalassaemia., British journal of haematology, 85(3), 546-52, 1993 PubMed
- Dimishkovska M, Kuzmanovska M, Kocheva S, Martinova K, Karanfilski O, Stojanoski Z, Plaseska-Karanfilska D, First Cases of Hb Agrinio Described in Patients from the Republic of Macedonia., Hemoglobin , 41(4), 308-310, 2017 PubMed
Created on 2010-06-16 16:13:15,
Last reviewed on 2018-01-25 16:44:08 (Show full history)
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2010-06-16 16:13:15 | The IthaGenes Curation Team | Created |
| 2 | 2013-10-15 17:00:14 | The IthaGenes Curation Team | Reviewed. |
| 3 | 2018-01-25 16:42:54 | The IthaGenes Curation Team | Reviewed. Mutation comment added. Reference added. |
| 4 | 2018-01-25 16:44:08 | The IthaGenes Curation Team | Reviewed. Other details added. |
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IthaGenes was last updated on 2024-04-18 10:10:45