IthaID: 4032
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | CD 80 AAC>AAA [Asn>Lys] | HGVS Name: | HBD:c.243C>A |
| Hb Name: | Hb A2-Lishui | Protein Info: | N/A |
Context nucleotide sequence:
TGATGGCCTGGCTCACCTGGACA [C>A] CCTCAAGGGCACTTTTTCTCAGCTGAG (Strand: -)
Protein sequence:
MVHLTPEEKTAVNALWGKVNVDAVGGEALGRLLVVYPWTQRFFESFGDLSSPDAVMGNPKVKAHGKKVLGAFSDGLAHLDKLKGTFSQLSELHCDKLHVDPENFRLLGNVLVCVLARNFGKEFTPQMQAAYQKVVAGVANALAHKYH
Also known as:
Comments: It was found in a 40-year-old male from Lishui City, Zhejiang Province, China, who had normal hematological parameters.
We follow the HGVS sequence variant nomenclature and IUPAC standards.
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: | 63552 |
| 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
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
Microattributions
| A/A | Contributor(s) | Date | Comments |
|---|---|---|---|
| 1 | Xu, Anping | 2023-06-20 | First report. |
Created on 2023-06-23 14:11:41,
Last reviewed on 2024-03-12 11:33:00 (Show full history)
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