IthaID: 277
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Pathogenic / Likely Pathogenic |
|---|---|---|---|
| Common Name: | Poly A (-TA); (AATAAA>AAAA) | HGVS Name: | HBB:c.*110_*111delTA |
| Hb Name: | N/A | Protein Info: | N/A |
| Also known as: |
We follow the
HGVS sequence variant nomenclature
and
IUPAC standards.
Context nucleotide sequence:
GGCCTTGAGCATCTGGATTCTGCCTAA [-/TA] AAAAACATTTATTTTCATTGCAAT (Strand: -)
Comments: Found in a French β-thalassaemic patient originating from Normandy. Found in an African American presenting with typical β-thal trait.
Phenotype
| Hemoglobinopathy Group: | Thalassaemia |
|---|---|
| Hemoglobinopathy Subgroup: | β-thalassaemia |
| Allele Phenotype: | β+ |
| Associated Phenotypes: |
Haemolytic anaemia [HP:0001878] Ineffective erythropoiesis [HP:0010972] |
Location
| Chromosome: | 11 |
|---|---|
| Locus: | NG_000007.3 |
| Locus Location: | 72128 |
| Size: | 2 bp |
| Located at: | β |
| Specific Location: | 3'UTR, Poly(A) |
Other details
| Type of Mutation: | Point-Mutation(Deletion) |
|---|---|
| Effect on Gene/Protein Function: | RNA cleavage - Poly(A) signal (mRNA Processing) |
| Ethnic Origin: | French, African-American |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | No |
In silico pathogenicity prediction
Frequencies
Publications / Origin
- Ghanem N, Girodon E, Vidaud M, Martin J, Fanen P, Plassa F, Goossens M, A comprehensive scanning method for rapid detection of beta-globin gene mutations and polymorphisms., Human mutation, 1(3), 229-39, 1992
- Kimberland ML, Boehm CD, Kazazian HH, Two novel beta-thalassemia alleles: poly A signal (AATAAA-->AAAA) and -92 C-->T., Human mutation, 5(3), 275-6, 1995
Created on 2010-06-16 16:13:15,
Last reviewed on 2020-10-02 10:20:52 (Show full history)
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