IthaID: 4007
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | CD 70 GTG>TTG [Val>Leu] | HGVS Name: | HBA1:c.211G>T |
| Hb Name: | N/A | Protein Info: | N/A |
Context nucleotide sequence:
GGTGGCCGACGCGCTGACCAACGCC [G>T] TGGCGCACGTGGACGACATGCCCAA (Strand: +)
Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNALAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR
Also known as: g.494 (GenBank MK600512.1)
Comments: Reported among alpha-thalassemia patients followed-up in a clinic in the south of Thi Qar province.
We follow the HGVS sequence variant nomenclature and IUPAC standards.
External Links
No available links
Phenotype
| Hemoglobinopathy Group: | Thalassaemia |
|---|---|
| Hemoglobinopathy Subgroup: | α-thalassaemia |
| Allele Phenotype: | α⁺ |
| Associated Phenotypes: | N/A |
Location
| Chromosome: | 16 |
|---|---|
| Locus: | NG_000006.1 |
| Locus Location: | 37907 |
| Size: | 1 bp |
| Located at: | α1 |
| Specific Location: | Exon 2 |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | N/A |
| Ethnic Origin: | Iraqi |
| 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.
Sequence Viewer
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Publications / Origin
- Odah Al-Musawi AH, Jumaah Alhussna A, Hussein Jalood H, Genetic Analysis of Alpha-Thalassemia Mutations in Thi-Gar Province, Iraq., Arch Razi Inst, 77(3), 976-980, 2022 PubMed
Created on 2023-01-23 12:18:02,
Last reviewed on 2023-01-23 12:23:02 (Show full history)
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2023-01-23 12:18:02 | The IthaGenes Curation Team | Created |
| 2 | 2023-01-23 12:19:21 | The IthaGenes Curation Team | Reviewed. Protein info |
| 3 | 2023-01-23 12:23:02 | The IthaGenes Curation Team | Reviewed. Synonym added |
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IthaGenes was last updated on 2024-11-20 13:24:07