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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 |
Context nucleotide sequence:
CAGATTACTGGTGGTCTACCCTTGGACC [C>A] AGAGGTTCTTTGAGTCCTTTGGGGATCT (Strand: -)
Protein sequence:
MVHLTPEEKTAVNALWGKVNVDAVGGEALGRLLVVYPWTKRFFESFGDLSSPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFSQLSELHCDKLHVDPENFRLLGNVLVCVLARNFGKEFTPQMQAAYQKVVAGVANALAHKYH
Also known as:
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.
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: | 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
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.
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 13:13:34,
Last reviewed on 2024-03-12 11:29:55 (Show full history)
A/A | Date | Curator(s) | Comments |
---|---|---|---|
1 | 2023-06-23 13:13:34 | The IthaGenes Curation Team | Created |
2 | 2023-06-23 13:25:50 | The IthaGenes Curation Team | Reviewed. Microattribution added |
3 | 2024-03-12 11:29:55 | The IthaGenes Curation Team | Reviewed. Reference added. |
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IthaGenes was last updated on 2024-09-05 13:01:20