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 |
| Also known as: |
We follow the
HGVS sequence variant nomenclature
and
IUPAC standards.
Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHRKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR
Comments: Unstable variant responsible for transfusion-dependent HbH disease when in combination with an α0-thal mutation.
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
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
Created on 2017-12-11 19:09:08,
Last reviewed on 2017-12-11 19:22:14 (Show full history)
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