IthaID: 2226
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Pathogenic / Likely Pathogenic |
|---|---|---|---|
| Common Name: | 3'UTR +46 C>A | HGVS Name: | HBA2:c.*46C>A |
| Hb Name: | N/A | Protein Info: | N/A |
Context nucleotide sequence:
TCCTGCCCGCTGGGCCTCCCAA [C/A] GGGCCCTCCTCCCCTCCTTGCA (Strand: +)
Also known as:
We follow the HGVS sequence variant nomenclature and IUPAC standards.
Phenotype
| Hemoglobinopathy Group: | Thalassaemia |
|---|---|
| Hemoglobinopathy Subgroup: | α-thalassaemia |
| Allele Phenotype: | α⁺ |
| Associated Phenotypes: | Haemolytic anaemia [HP:0001878] |
Location
| Chromosome: | 16 |
|---|---|
| Locus: | NG_000006.1 |
| Locus Location: | 34509 |
| Size: | 1 bp |
| Located at: | α2 |
| Specific Location: | 3'UTR |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | Other 3'UTR site (mRNA Processing) |
| Ethnic Origin: | Iranian |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | No |
In silico pathogenicity prediction
Publications / Origin
- Tamaddoni A, Hadavi V, Nejad NH, Khosh-Ain A, Siami R, Aghai-Meibodi J, Almadani N, Oberkanins C, Law HY, Najmabadi H, alpha-Thalassemia mutation analyses in Mazandaran province, North Iran., Hemoglobin , 33(2), 115-23, 2009
Created on 2013-10-02 17:10:42,
Last reviewed on 2022-05-16 09:54:18 (Show full history)
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