IthaID: 4029
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | CD 39 CAG>AAG [Gln>Lys] | HGVS Name: | HBD:c.118C>A |
| Hb Name: | Hb A2-Chengdu | Protein Info: | N/A |
| Also known as: |
We follow the
HGVS sequence variant nomenclature
and
IUPAC standards.
Context nucleotide sequence:
CAGATTACTGGTGGTCTACCCTTGGACC [C>A] AGAGGTTCTTTGAGTCCTTTGGGGATCT (Strand: -)
Protein sequence:
MVHLTPEEKTAVNALWGKVNVDAVGGEALGRLLVVYPWTKRFFESFGDLSSPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFSQLSELHCDKLHVDPENFRLLGNVLVCVLARNFGKEFTPQMQAAYQKVVAGVANALAHKYH
Comments: It was found in a 43-year-old male from Chengdu, Sichuan Province, China, who had normal hematological parameters. This Hb variant was detectable by capillary electrophoresis.
External Links
No available 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: | 63428 |
| 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: | Chinese |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | Yes |
In silico pathogenicity prediction
Sequence Viewer
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Publications / Origin
- Xu A, Li M, Ye Y, Li L, Ma M, Wu SY, Ji L, Mutational spectrum of HBD gene in the Chinese population: Description of 36 mutations including 11 novel variants., Int J Lab Hematol, 45(6), 961-968, 2023 PubMed
Microattributions
| A/A | Contributor(s) | Date | Comments |
|---|---|---|---|
| 1 | Xu, Anping | 2023-06-20 | First report. |
Created on 2023-06-23 13:13:34,
Last reviewed on 2024-03-12 11:29:55 (Show full history)
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