IthaID: 3302
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Benign / Likely Benign |
|---|---|---|---|
| Common Name: | 3'UTR +46 C>A | HGVS Name: | HBA1:c.*46C>A |
| Hb Name: | N/A | Protein Info: | N/A |
Context nucleotide sequence:
GCTTCTTGCCCCTTGGGCCTCCCCC [C/A] AGCCCCTCCTCCCCTTCCTGCACCC (Strand: +)
Also known as:
We follow the HGVS sequence variant nomenclature and IUPAC standards.
Phenotype
| Hemoglobinopathy Group: | Thalassaemia |
|---|---|
| Hemoglobinopathy Subgroup: | α-thalassaemia |
| Allele Phenotype: | N/A |
| Associated Phenotypes: | N/A |
Location
| Chromosome: | 16 |
|---|---|
| Locus: | NG_000006.1 |
| Locus Location: | 38320 |
| Size: | 1 bp |
| Located at: | α1 |
| Specific Location: | 3'UTR |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | Other 3'UTR site (mRNA Processing) |
| Ethnic Origin: | N/A |
| Molecular mechanism: | N/A |
| Inheritance: | Quantitative trait |
| 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
- Lacerra G, Fiorito M, Musollino G, Di Noce F, Esposito M, Nigro V, Gaudiano C, Carestia C, Sequence variations of the alpha-globin genes: scanning of high CG content genes with DHPLC and DG-DGGE., Hum. Mutat. , 24(4), 338-49, 2004 PubMed
- Ropero P, González FA, Nieto JM, Villegas A, Sevilla J, Pérez G, Alonso JM, Recasens V, Abio M, Vagace JM, Vanegas RJ, González Fernández B, Martínez R, C>A substitution in NT 46 of the 3' UTR region (the α complex protected region) of the alpha-1 globin gene: a non-deletional mutation or polymorphism?, J. Clin. Pathol., 73(1), 14-16, 2020 PubMed
Created on 2018-01-30 19:12:40,
Last reviewed on 2022-10-21 08:58:28 (Show full history)
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2018-01-30 19:12:40 | The IthaGenes Curation Team | Created |
| 2 | 2018-01-31 16:48:02 | The IthaGenes Curation Team | Reviewed. Mutation synonym name removed. |
| 3 | 2020-01-17 12:02:46 | The IthaGenes Curation Team | Reviewed. Reference added. |
| 4 | 2021-05-26 10:02:14 | The IthaGenes Curation Team | Reviewed. HGVS name corrected. Effect on gene added. |
| 5 | 2022-10-21 08:58:28 | The IthaGenes Curation Team | Reviewed. Functionality changed. |
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IthaGenes was last updated on 2024-11-20 13:24:07