IthaID: 275
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Pathogenic / Likely Pathogenic |
|---|---|---|---|
| Common Name: | Poly A (A>G) AATAAA>AATAGA | HGVS Name: | HBB:c.*112A>G |
| Hb Name: | N/A | Protein Info: | β nt 1586 A>G |
Context nucleotide sequence:
TTGAGCATCTGGATTCTGCCTAATA [A>G] AAAACATTTATTTTCATTGCAATGA (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: | 72130 |
| 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: | Malay |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | No |
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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Frequencies
Publications / Origin
- Jankovic L, Efremov GD, Petkov G, Kattamis C, George E, Yang KG, Stoming TA, Huisman TH, Two novel polyadenylation mutations leading to beta(+)-thalassemia., British journal of haematology, 75(1), 122-6, 1990 PubMed
- Lim YC, Tan KM, Chong SS, Rajendran J, Sampath V, A Patient with β-Thalassemia Intermedia Secondary to Homozygosity for a Polyadenylation Signal Mutation (AATAAA > AATAGA) (HBB: C.*112A > G) on the β-Globin Gene., Hemoglobin, 40(5), 359-360, 2016 PubMed
Created on 2010-06-16 16:13:15,
Last reviewed on 2023-01-10 09:27:06 (Show full history)
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2010-06-16 16:13:15 | The IthaGenes Curation Team | Created |
| 2 | 2013-10-15 17:28:32 | The IthaGenes Curation Team | Reviewed. |
| 3 | 2014-04-08 16:04:04 | The IthaGenes Curation Team | Reviewed. |
| 4 | 2021-08-27 12:42:08 | The IthaGenes Curation Team | Reviewed. Reference added. |
| 5 | 2023-01-10 09:27:06 | The IthaGenes Curation Team | Reviewed. Link added |
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IthaGenes was last updated on 2024-11-20 13:24:07