IthaID: 276
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Pathogenic / Likely Pathogenic |
|---|---|---|---|
| Common Name: | Poly A (A>G) AATAAA>AATAAG | HGVS Name: | HBB:c.*113A>G |
| Hb Name: | N/A | Protein Info: | β nt 1587 A>G |
Context nucleotide sequence:
TGAGCATCTGGATTCTGCCTAATAA [A/G] AAACATTTATTTTCATTGCAATGAT (Strand: -)
Also known as:
We follow the HGVS sequence variant nomenclature and IUPAC standards.
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: | 72131 |
| Size: | 1 bp |
| Located at: | β |
| Specific Location: | 3'UTR, Poly(A) |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | RNA cleavage - Poly(A) signal (mRNA Processing) |
| Ethnic Origin: | Kurdish |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | No |
In silico pathogenicity prediction
Frequencies
Publications / Origin
- Rund D, Filon D, Dowling C, Kazazian HH, Rachmilewitz EA, Oppenheim A, Molecular studies of beta-thalassemia in Israel. Mutational analysis and expression studies., Ann. N. Y. Acad. Sci. , 612(0), 98-105, 1990
- Rund D, Cohen T, Filon D, Dowling CE, Warren TC, Barak I, Rachmilewitz E, Kazazian HH, Oppenheim A, Evolution of a genetic disease in an ethnic isolate: beta-thalassemia in the Jews of Kurdistan., Proceedings of the National Academy of Sciences of the United States of America, 88(1), 310-4, 1991
Created on 2010-06-16 16:13:15,
Last reviewed on 2023-01-10 09:33:21 (Show full history)
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