IthaID: 3564
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Pathogenic / Likely Pathogenic |
|---|---|---|---|
| Common Name: | Init CD ATG>ATC [Met>Ile] | HGVS Name: | HBA2:c.3G>C |
| Hb Name: | N/A | Protein Info: | N/A |
Context nucleotide sequence:
CAGACTCAGAGAGAACCCACCAT [G>C] GTGCTGTCTCCTGCCGACAAGACC (Strand: +)
Protein sequence:
IVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR
Also known as:
Comments: Reported in a Chinese young adult and his father in a heterozygous form. They both had a haematological phenotype of mild α+ thalassemia trait with low-normal limit of MCV and normal Hb A2. RNA analysis showed markedly decreased levels of α-globin mRNA and the presence of a small amount of mutant mRNA.
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: | 33778 |
| 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
- Lei YL, Sui H, Liu YJ, Pan JJ, Liu YH, Lou JW, Molecular and Hematological Characterization of a Novel Translation Initiation Codon Mutation of the α2-Globin Gene (AT>AT or : c.3G>C)., Hemoglobin, 43(0), 241-244, 2019 PubMed
Created on 2020-01-31 13:01:26,
Last reviewed on 2023-07-03 10:09:29 (Show full history)
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2020-01-31 13:01:26 | The IthaGenes Curation Team | Created |
| 2 | 2020-01-31 14:18:28 | The IthaGenes Curation Team | Reviewed. Strand orientation corrected. |
| 3 | 2020-02-03 09:40:11 | The IthaGenes Curation Team | Reviewed. Text edits. |
| 4 | 2023-07-03 10:09:29 | The IthaGenes Curation Team | Reviewed. Effect corrected |
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IthaGenes was last updated on 2024-11-20 13:24:07