IthaID: 3175
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Pathogenic / Likely Pathogenic |
|---|---|---|---|
| Common Name: | CD 58 CAC>CTC [His>Leu] | HGVS Name: | HBA1:c.176A>T |
| Hb Name: | Hb Kirklareli | Protein Info: | N/A |
Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGLGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR
Also known as:
Comments: The crystal structure of Hb Kirklareli shows that the mutation creates a completely apolar active site, which prevents electrostatic stabilization of bound O2, promotes autoxidation, and enhances hemin dissociation by inhibiting water coordination to the Fe(III) atom.
We follow the HGVS sequence variant nomenclature and IUPAC standards.
External Links
Phenotype
| Hemoglobinopathy Group: | Structural Haemoglobinopathy |
|---|---|
| Hemoglobinopathy Subgroup: | α-chain variant |
| Allele Phenotype: | N/A |
| Stability: | Unstable |
| Oxygen Affinity: | Decreased Oxygen Affinity |
| Associated Phenotypes: | Haemolytic anaemia [HP:0001878] |
Location
| Chromosome: | 16 |
|---|---|
| Locus: | NG_000006.1 |
| Locus Location: | 37872 |
| Size: | 1 bp |
| Located at: | α1 |
| Specific Location: | Exon 2 |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | Missense codons (Protein Structure) |
| Ethnic Origin: | Turkish |
| Molecular mechanism: | Altered heme pocket |
| 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
- Bissé E, Schaeffer-Reiss C, Van Dorsselaer A, Alayi TD, Epting T, Winkler K, Benitez Cardenas AS, Soman J, Birukou I, Samuel PP, Olson JS, Hemoglobin Kirklareli (α H58L), a New Variant Associated with Iron Deficiency and Increased CO Binding., J. Biol. Chem. , 292(6), 2542-2555, 2017 PubMed
Created on 2017-02-13 15:01:38,
Last reviewed on 2019-04-04 15:57:25 (Show full history)
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2017-02-13 15:01:38 | The IthaGenes Curation Team | Created |
| 2 | 2017-02-13 15:06:54 | The IthaGenes Curation Team | Reviewed. Protein info added. |
| 3 | 2017-02-13 15:07:55 | The IthaGenes Curation Team | Reviewed. |
| 4 | 2017-02-13 15:09:18 | The IthaGenes Curation Team | Reviewed. |
| 5 | 2019-04-04 15:57:25 | The IthaGenes Curation Team | Reviewed. HbVar link added. |
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IthaGenes was last updated on 2024-11-20 13:24:07