IthaID: 4191
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | CD 92 CGG>CAG [Arg>Gln] | HGVS Name: | HBA2:c.278G>A |
| Hb Name: | Hb J-Cape Town-A2 | Protein Info: | α2 92(FG4) Arg>Gln |
| Also known as: | Hb J-Cape Town-Thailand |
We follow the
HGVS sequence variant nomenclature
and
IUPAC standards.
Context nucleotide sequence:
AGCGACCTGCACGCGCACAAGCTTC [G/A] AGCGACCTGCACGCGCACAAGCTTC (Strand: +)
Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLQVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR
Comments: Identified in an adult male in association with Hb E [IthaID: 88], with normal haematological indices. Haemoglobin analysis by capillary electrophoresis revealed Hb E at 17.4%, and two additional Hb variants at 21.7% and 6.2%. DNA sequencing revealed a normal α1-globin gene, whereas the α2-globin gene harboured a CGG (Arg) to CAG (Gln) substitution at codon 92, resulting in Hb J-Cape Town-A2 (or Hb J-Cape Town-Thailand).
Phenotype
| Hemoglobinopathy Group: | Structural Haemoglobinopathy |
|---|---|
| Hemoglobinopathy Subgroup: | α-chain variant |
| Allele Phenotype: | N/A |
| Stability: | N/A |
| Oxygen Affinity: | N/A |
| Associated Phenotypes: | N/A |
Location
| Chromosome: | 16 |
|---|---|
| Locus: | NG_000006.1 |
| Locus Location: | 34170 |
| Size: | 1 bp |
| Located at: | α2 |
| Specific Location: | Exon 2 |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | Missense codons (Protein Structure) |
| Ethnic Origin: | Thai |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | Yes |
In silico pathogenicity prediction
Sequence Viewer
Frequencies
Publications / Origin
To the best of our knowledge, this is unpublished data. Please use with caution!
Microattributions
| A/A | Contributor(s) | Date | Comments |
|---|---|---|---|
| 1 | Singha, Kritsada | 2026-09-27 | First report. |