IthaID: 3604
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | Init CD ATG>GTG [Met>Pro] | HGVS Name: | HBA2:c.1A>G |
| Hb Name: | N/A | Protein Info: | N/A |
Context nucleotide sequence:
CCCACAGACTCAGAGAGAACCCACC [A/G] TGGTGCTGTCTCCTGCCGACAAGAC (Strand: +)
Protein sequence:
PVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR
Also known as:
Comments: Found in a 25-year old Chinese man presented with mild anaemia. This mutation in combination with the Southeast Asian --SEA deletion [IthaID:309] found in proband’s unborn child. The fetal cord blood showed a peak for Hb Barts indicating that the fetus had Hb H disease.
We follow the HGVS sequence variant nomenclature and IUPAC standards.
External Links
No available links
Phenotype
| Hemoglobinopathy Group: | Thalassaemia |
|---|---|
| Hemoglobinopathy Subgroup: | α-thalassaemia |
| Allele Phenotype: | α⁺ |
| Associated Phenotypes: | N/A |
Location
| Chromosome: | 16 |
|---|---|
| Locus: | NG_000006.1 |
| Locus Location: | 33776 |
| Size: | 1 bp |
| Located at: | α2 |
| Specific Location: | Exon 1 |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | Initiation codon (Translation) |
| Ethnic Origin: | Chinese |
| Molecular mechanism: | N/A |
| 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
- Chen X, Luo S, Huang J, Yuan D, Yan T, Cai R, Tang N, Diagnosis and Prenatal Diagnosis in a Chinese Family Carrying the Rare α-Thalassemia Gene : c.1A>G Mutation., Hemoglobin, 44(1), 51-54, 2020 PubMed
Created on 2020-07-15 08:28:56,
Last reviewed on 2020-07-15 08:33:37 (Show full history)
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2020-07-15 08:28:56 | The IthaGenes Curation Team | Created |
| 2 | 2020-07-15 08:33:37 | The IthaGenes Curation Team | Reviewed. Comment added. |
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IthaGenes was last updated on 2024-12-03 11:48:06