IthaID: 41
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Pathogenic / Likely Pathogenic |
|---|---|---|---|
| Common Name: | CAP +45 (G>C) | HGVS Name: | HBB:c.-6G>C |
| Hb Name: | Hb Odisha | Protein Info: | N/A |
| Also known as: |
We follow the
HGVS sequence variant nomenclature
and
IUPAC standards.
Comments: The β+45 G>C mutation is found in the Kozak sequence of the β-globin gene at the position -6 upstream the translation initiation codon ATG. Found in a family from Puglia, Italy; assymptomatic in the heterozygotes, worsened hematological phenotype and a more unbalanced β/α biosynthetic ratio in compound heterozygotes. mRNA analysis did not reveal transcriptional alterations, while in vitro experiments demonstrated an impairement of translation by about 30% [PMID: 14687034]. Found as a heterozygote in an Indian individual with no information on hematologic or phenotypic data [PMID: 24099628].
Phenotype
| Hemoglobinopathy Group: | Thalassaemia |
|---|---|
| Hemoglobinopathy Subgroup: | β-thalassaemia |
| Allele Phenotype: | β++ (silent) |
| Associated Phenotypes: |
Haemolytic anaemia [HP:0001878] Ineffective erythropoiesis [HP:0010972] |
Location
| Chromosome: | 11 |
|---|---|
| Locus: | NG_000007.3 |
| Locus Location: | 70589 |
| Size: | 1 bp |
| Located at: | β |
| Specific Location: | 5'UTR |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | 5'UTR (Transcription) |
| Ethnic Origin: | Italian, Indian |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | Yes |
In silico pathogenicity prediction
Publications / Origin
- De Angioletti M, Lacerra G, Sabato V, Carestia C, Beta+45 G --> C: a novel silent beta-thalassaemia mutation, the first in the Kozak sequence., British journal of haematology, 124(2), 224-31, 2004
- Sahoo SS, Biswal S, Dixit M, Distinctive mutation spectrum of the HBB gene in an urban eastern Indian population., Hemoglobin , 38(1), 33-8, 2014
Created on 2010-06-16 16:13:14,
Last reviewed on 2019-05-31 09:29:33 (Show full history)
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