IthaID: 4013
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | CD 93 TGT>TGG [Cys>Trp] | HGVS Name: | HBD:c.282T>G |
| Hb Name: | Hb A2-Pontedera | Protein Info: | delta 93(F9) Cys>Trp |
Context nucleotide sequence:
TTTTTCTCAGCTGAGTGAGCTGCACTG [T>G] GACAAGCTGCACGTGGATCCTGA (Strand: -)
Protein sequence:
MVHLTPEEKTAVNALWGKVNVDAVGGEALGRLLVVYPWTQRFFESFGDLSSPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFSQLSELHWDKLHVDPENFRLLGNVLVCVLARNFGKEFTPQMQAAYQKVVAGVANALAHKYH
Also known as:
Comments: Found in a heterozygous state in a 36-year-old Moroccan woman with normal laboratory findings and clinical image. Normochromic, normocytosis with Hb A2+Hb A2-X 2.0 % of total Hb. HbA2-Pontedera is detected by capillary electrophoresis, producing a slight shouldering of Hb A2 in a more anodic position on the Capi 3 Hemoglobin kit.
We follow the HGVS sequence variant nomenclature and IUPAC standards.
External Links
Phenotype
| Hemoglobinopathy Group: | Structural Haemoglobinopathy |
|---|---|
| Hemoglobinopathy Subgroup: | δ-chain variant |
| Allele Phenotype: | N/A |
| Stability: | N/A |
| Oxygen Affinity: | N/A |
| Associated Phenotypes: | N/A |
Location
| Chromosome: | 11 |
|---|---|
| Locus: | NG_000007.3 |
| Locus Location: | 63592 |
| Size: | 1 bp |
| Located at: | δ |
| Specific Location: | Exon 2 |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | Missense codons (Protein Structure) |
| Ethnic Origin: | Moroccan |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | Yes |
In silico pathogenicity prediction
Sequence Viewer
Publications / Origin
To the best of our knowledge, this is unpublished data. Please use with caution!
Microattributions
| A/A | Contributor(s) | Date | Comments |
|---|---|---|---|
| 1 | Coviello, Domenico | 2023-01-30 | First report. |
| 2 | Mogni, Massimo | 2023-01-30 | First report. |
| 3 | Maffei, Massimo | 2023-01-30 | First report. |
| 4 | Manzini, Serena | 2023-01-30 | First report. |
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2023-01-31 10:53:50 | The IthaGenes Curation Team | Created |
| 2 | 2023-03-13 15:12:32 | The IthaGenes Curation Team | Reviewed. Allele strand info corrected |
| 3 | 2023-04-10 14:46:43 | The IthaGenes Curation Team | Reviewed. Contributor list |
| 4 | 2023-04-10 14:48:00 | The IthaGenes Curation Team | Reviewed. |
| 5 | 2023-06-09 09:46:00 | The IthaGenes Curation Team | Reviewed. Link added |