IthaID: 4185
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | CD 126 GAC>AAC [Asp>Asn] | HGVS Name: | HBA1:c.379G>A |
| Hb Name: | Hb Tarrant-Thailand | Protein Info: | α1 126(H9) Asp>Asn |
| Also known as: | Hb Tarrant-A1 |
We follow the
HGVS sequence variant nomenclature
and
IUPAC standards.
Context nucleotide sequence:
CACCCCTGCGGTGCACGCCTCCCTG [G/A] ACAAGTTCCTGGCTTCTGTGAGCAC (Strand: +)
Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLNKFLASVSTVLTSKYR
Comments: Identified in a 32-year-old woman during prenatal thalassemia screening, in association with homozygous Hb E [IthaID: 88]. The patient presented with hypochromia and microcytosis. Haemoglobin analysis by high-performance liquid chromatography demonstrated an EE phenotype (72.4%) with mildly elevated Hb F level (2.9%) and an additional Hb variant (13.4%) eluting in the S window (retention time of 4.57 min).
External Links
Phenotype
| Hemoglobinopathy Group: | Structural Haemoglobinopathy |
|---|---|
| Hemoglobinopathy Subgroup: | α-chain variant |
| Allele Phenotype: | α⁺ |
| Stability: | N/A |
| Oxygen Affinity: | N/A |
| Associated Phenotypes: | N/A |
Location
| Chromosome: | 16 |
|---|---|
| Locus: | NG_000006.1 |
| Locus Location: | 38224 |
| Size: | 1 bp |
| Located at: | α1 |
| Specific Location: | Exon 3 |
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
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To the best of our knowledge, this is unpublished data.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 | 2026-05-05 | First report. |