IthaID: 2560
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | CD 142 GCT>GTT [Ala>Val] | HGVS Name: | HBD:c.428C>T |
| Hb Name: | Hb A2-Episkopi | Protein Info: | N/A |
Context nucleotide sequence:
GTGGCTGGTGTGGCTAATGCCCTGG [C>T] TCACAAGTACCATTGAGATCCTGGA (Strand: -)
Protein sequence:
MVHLTPEEKTAVNALWGKVNVDAVGGEALGRLLVVYPWTQRFFESFGDLSSPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFSQLSELHCDKLHVDPENFRLLGNVLVCVLARNFGKEFTPQMQAAYQKVVAGVANALVHKYH
Also known as:
Comments: Full information for this mutation is withheld pending acceptance for publication.
We follow the HGVS sequence variant nomenclature and IUPAC standards.
Phenotype
| Hemoglobinopathy Group: | Thalassaemia and Structural Haemoglobinopathy |
|---|---|
| Hemoglobinopathy Subgroup: | δ-thalassaemia, δ-chain variant |
| Allele Phenotype: | δ+ |
| Stability: | Unstable |
| Oxygen Affinity: | N/A |
| Associated Phenotypes: | N/A |
Location
| Chromosome: | 11 |
|---|---|
| Locus: | NG_000007.3 |
| Locus Location: | 64636 |
| Size: | 1 bp |
| Located at: | δ |
| Specific Location: | Exon 3 |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | Missense codons (Protein Structure) |
| Ethnic Origin: | Cypriot, Lebanese |
| Molecular mechanism: | N/A |
| 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
- Lederer CW, Pavlou E, Tanteles GA, Evangelidou P, Sismani C, Kolnagou A, Sitarou M, Christou S, Hadjigavriel M, Kleanthous M, Hb A Episkopi - a novel δ-globin chain variant [HBD:c.428C>T] in a family of mixed Cypriot-Lebanese descent., Hematology, 22(5), 304-309, 2017 PubMed
Microattributions
| A/A | Contributor(s) | Date | Comments |
|---|---|---|---|
| 1 | Lederer, Carsten W. | 2015-09-01 | First report. |
Created on 2015-09-01 16:14:34,
Last reviewed on 2024-02-28 16:15:19 (Show full history)
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2015-09-01 16:14:34 | The IthaGenes Curation Team | Created |
| 2 | 2015-09-01 16:16:21 | The IthaGenes Curation Team | Reviewed. |
| 3 | 2015-09-01 16:19:44 | The IthaGenes Curation Team | Reviewed. |
| 4 | 2016-09-20 15:22:18 | The IthaGenes Curation Team | Reviewed. |
| 5 | 2016-09-20 15:23:56 | The IthaGenes Curation Team | Reviewed. |
| 6 | 2024-02-28 16:14:07 | The IthaGenes Curation Team | Reviewed. Variant names, DNA and Protein info, Coordinates and Reference added. |
| 7 | 2024-02-28 16:15:19 | The IthaGenes Curation Team | Reviewed. Links added |
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IthaGenes was last updated on 2024-11-20 13:24:07