IthaID: 4039
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | CD 18 GTG>GGG [Val>Gly] | HGVS Name: | HBD:c.56T>G |
| Hb Name: | Hb A2-Siping | Protein Info: | N/A |
Context nucleotide sequence:
CTGTCAATGCCCTGTGGGGCAAAG [T>G] GAACGTGGATGCAGTTGGTGGTGA (Strand: -)
Protein sequence:
MVHLTPEEKTAVNALWGKGNVDAVGGEALGRLLVVYPWTQRFFESFGDLSSPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFSQLSELHCDKLHVDPENFRLLGNVLVCVLARNFGKEFTPQMQAAYQKVVAGVANALAHKYH
Also known as:
Comments: It was found in a 74-year-old female from Siping City, Jilin Province, China, who had normal hematological parameters. Capillary electrophoresis did not show any variant peaks.
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: | 63238 |
| Size: | 1 bp |
| Located at: | δ |
| Specific Location: | Exon 1 |
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 2023-06-26 11:53:55,
Last reviewed on 2024-03-12 11:36:35 (Show full history)
Disclaimer: The information on this website is provided as an information resource only
and must not to be used as a substitute for professional diagnosis and treatment.
The ITHANET Portal and IthaGenes are not responsible or liable for any advice, course of treatment,
diagnosis or any other information, services or products that an individual obtains through this website.