IthaID: 3280
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Pathogenic / Likely Pathogenic |
|---|---|---|---|
| Common Name: | CD 59 GGC>CGC [Gly>Arg] | HGVS Name: | HBA1:c.178G>C |
| Hb Name: | Hb Zurich-Albisrieden | Protein Info: | α59(E8)Gly>Arg |
Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHRKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR
Also known as:
Comments: Unstable variant responsible for transfusion-dependent HbH disease when in combination with an α0-thal mutation.
We follow the HGVS sequence variant nomenclature and IUPAC standards.
External Links
No available links
Phenotype
| Hemoglobinopathy Group: | Thalassaemia and Structural Haemoglobinopathy |
|---|---|
| Hemoglobinopathy Subgroup: | α-thalassaemia, α-chain variant |
| Allele Phenotype: | α⁺ |
| Stability: | Unstable |
| Oxygen Affinity: | N/A |
| Associated Phenotypes: | Haemolytic anaemia [HP:0001878] |
Location
| Chromosome: | 16 |
|---|---|
| Locus: | NG_000006.1 |
| Locus Location: | 37874 |
| Size: | 1 bp |
| Located at: | α1 |
| 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.
Sequence Viewer
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Publications / Origin
- Jiang H, Huang LY, Zhen L, Jiang F, Li DZ, Two α1-Globin Gene Point Mutations Causing Severe Hb H Disease., Hemoglobin , 2017 PubMed
Created on 2017-12-11 19:09:08,
Last reviewed on 2017-12-11 19:22:14 (Show full history)
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2017-12-11 19:09:08 | The IthaGenes Curation Team | Created |
| 2 | 2017-12-11 19:18:24 | The IthaGenes Curation Team | Reviewed. Comment and Clinical phenotype added. |
| 3 | 2017-12-11 19:22:14 | The IthaGenes Curation Team | Reviewed. Allele phenotype added. |
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IthaGenes was last updated on 2024-11-20 13:24:07