IthaID: 274
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Pathogenic / Likely Pathogenic |
|---|---|---|---|
| Common Name: | Poly A (A>G) AATAAA>AATGAA | HGVS Name: | HBB:c.*111A>G |
| Hb Name: | N/A | Protein Info: | β nt 1585 A>G |
Context nucleotide sequence:
CTTGAGCATCTGGATTCTGCCTAAT [A/G] AAAAACATTTATTTTCATTGCAATG (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: | 72129 |
| 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: | Mediterranean |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | No |
In silico pathogenicity prediction
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
Created on 2010-06-16 16:13:15,
Last reviewed on 2023-01-10 09:31:34 (Show full history)
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