IthaID: 1393
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | CD 142 GCT>GAT [Ala>Asp] | HGVS Name: | HBD:c.428C>A |
| Hb Name: | Hb A2-Fitzroy | Protein Info: | δ 142(H20) Ala>Asp |
Context nucleotide sequence:
GTGGCTGGTGTGGCTAATGCCCTGG [A/C] TCACAAGTACCATTGAGATCCTGGA (Strand: -)
Protein sequence:
MVHLTPEEKTAVNALWGKVNVDAVGGEALGRLLVVYPWTQRFFESFGDLSSPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFSQLSELHCDKLHVDPENFRLLGNVLVCVLARNFGKEFTPQMQAAYQKVVAGVANALDHKYH
Also known as:
We follow the HGVS sequence variant nomenclature and IUPAC standards.
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: | 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: | Greek |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | Yes |
In silico pathogenicity prediction
Publications / Origin
- Williamson D, Brennan SO, Strosberg H, Whitty J, Carrell RW, Hemoglobin A2 Fitzroy delta 142 Ala----Asp: a new delta-chain variant., Hemoglobin, 8(4), 325-32, 1984
Created on 2010-06-16 16:13:17,
Last reviewed on 2014-08-22 09:35:12 (Show full history)
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