IthaID: 3266
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Pathogenic / Likely Pathogenic |
|---|---|---|---|
| Common Name: | CD 22 GGC>GGT [Gly>Gly] | HGVS Name: | HBA1:c.69C>T |
| Hb Name: | N/A | Protein Info: | N/A |
Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR
Also known as:
We follow the HGVS sequence variant nomenclature and IUPAC standards.
External Links
Phenotype
| Hemoglobinopathy Group: | Thalassaemia |
|---|---|
| Hemoglobinopathy Subgroup: | α-thalassaemia |
| Allele Phenotype: | α⁺ |
| Associated Phenotypes: | Haemolytic anaemia [HP:0001878] |
Location
| Chromosome: | 16 |
|---|---|
| Locus: | NG_000006.1 |
| Locus Location: | 37648 |
| Size: | 1 bp |
| Located at: | α1 |
| Specific Location: | Exon 1 |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | Cryptic splice site (mRNA Processing) |
| Ethnic Origin: | Italian |
| 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
- Cardiero G, Scarano C, Musollino G, Di Noce F, Prezioso R, Dembech S, La Porta G, Bisconte MG, Colella R, Lacerra G, Role of NMD and NAS in the mRNA pattern of two new α-thalassemia mutants., Int. J. Biochem. Cell Biol. , 2017 PubMed
Created on 2017-09-28 18:49:05,
Last reviewed on 2022-07-12 12:03:44 (Show full history)
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2017-09-28 18:49:05 | The IthaGenes Curation Team | Created |
| 2 | 2017-09-28 18:57:16 | The IthaGenes Curation Team | Reviewed. Protein info added. |
| 3 | 2021-03-11 15:46:02 | The IthaGenes Curation Team | Reviewed. Link added. |
| 4 | 2022-07-12 12:03:44 | The IthaGenes Curation Team | Reviewed. Allele phenotype added. |
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IthaGenes was last updated on 2024-11-20 13:24:07