IthaID: 3217
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Pathogenic / Likely Pathogenic |
|---|---|---|---|
| Common Name: | CD 31 AGG>TGG [Arg>Trp] | HGVS Name: | HBA2:c.94A>T |
| Hb Name: | Hb Debao | Protein Info: | α2 31(B12) Arg>Trp |
Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALEWMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR
Also known as:
Comments: Mutation in the B-helix of the α2-globin chain, located in the conserved motif of the first exon-intron junction. It produces a mild phenotype in association with an α+ thalassemia deletion and a severe form of Hb H (β4) disease in combination with an α0 thalassemia deletion. It cannot be detected by usual electrophoretic or chromatographic methods, hence it is presumed to be hyperunstable.
We follow the HGVS sequence variant nomenclature and IUPAC standards.
External Links
Phenotype
| Hemoglobinopathy Group: | Thalassaemia and Structural Haemoglobinopathy |
|---|---|
| Hemoglobinopathy Subgroup: | α-thalassaemia, α-chain variant |
| Allele Phenotype: | α⁺ |
| Stability: | Hyperunstable |
| Oxygen Affinity: | N/A |
| Associated Phenotypes: | N/A |
Location
| Chromosome: | 16 |
|---|---|
| Locus: | NG_000006.1 |
| Locus Location: | 33869 |
| Size: | 1 bp |
| Located at: | α2 |
| Specific Location: | Exon 1 |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | Cryptic splice site (mRNA Processing), Missense codons (Protein Structure) |
| Ethnic Origin: | Chinese |
| Molecular mechanism: | Altered α1β1 interface |
| 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
- Lin L, Chen B, Yi S, Chen Q, Wei H, Li G, Zheng C, Qiu XX, He S, A Novel α2-Globin Gene Mutation: Hb Debao [α31(B12)Arg→Trp; HBA2: c.94A>T]., Hemoglobin, 41(1), 65-67, 2017 PubMed
Created on 2017-05-08 11:51:28,
Last reviewed on 2019-04-04 15:56:09 (Show full history)
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2017-05-08 11:51:28 | The IthaGenes Curation Team | Created |
| 2 | 2019-04-04 15:56:09 | The IthaGenes Curation Team | Reviewed. Reference and HbVar link added. Comment edited. |
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IthaGenes was last updated on 2024-11-20 13:24:07