IthaID: 4078
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | CD 108 ACC>CCC [Thr>Pro] | HGVS Name: | HBA1:c.325A>C |
| Hb Name: | N/A | Protein Info: | N/A |
Context nucleotide sequence:
CTCCTAAGCCACTGCCTGCTGGTG [A>C] CCCTGGCCGCCCACCTCCCCGCCGA (Strand: +)
Also known as:
Comments: Detected in a heterozygous state in a pregnant female presenting with microcytic hypochromic anemia. Functional analysis revealed that this variation considerably reduced the expression of the HBA1 protein.
We follow the HGVS sequence variant nomenclature and IUPAC standards.
External Links
No available links
Phenotype
| Hemoglobinopathy Group: | Thalassaemia and Structural Haemoglobinopathy |
|---|---|
| Hemoglobinopathy Subgroup: | α-thalassaemia, 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: | 34359 |
| Size: | 1 bp |
| Located at: | α1 |
| Specific Location: | Exon 2 |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | N/A |
| Ethnic Origin: | N/A |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | Yes |
In silico pathogenicity prediction
Publications / Origin
- Zhang W, Han X, Deng J, Zhou R, Du X, Wu C, Li M, Two Novel α-Thalassemia Mutations CD 39 -C [Thr > Pro] and CD 109 ACC > CCC [Thr > Pro] Identified in Two Chinese Families: A Case Report., Hemoglobin, 47(4), 172-179, 2023
Created on 2023-11-13 13:21:43,
Last reviewed on 2023-11-21 09:29:16 (Show full history)
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