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 |
| Also known as: |
We follow the
HGVS sequence variant nomenclature
and
IUPAC standards.
Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALEWMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR
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.
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
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
Created on 2017-05-08 11:51:28,
Last reviewed on 2019-04-04 15:56:09 (Show full history)
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