IthaID: 13
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Pathogenic / Likely Pathogenic |
|---|---|---|---|
| Common Name: | -86 C>G | HGVS Name: | HBB:c.-136C>G |
| Hb Name: | N/A | Protein Info: | β nt -86 C>G |
| Also known as: |
We follow the
HGVS sequence variant nomenclature
and
IUPAC standards.
Context nucleotide sequence:
AGACCTCACCCTGTGGAGCCACACC [A/C/G] TAGGGTTGGCCAATCTACTCCCAGG (Strand: -)
Comments: The mutation is located at -86 within the proximal CACCC motif in the promoter of the HBB gene. This motif is an erythroid-specific binding site of EKLF, a transcription factor with critical role in erythropoiesis and regulation of haemoglobin switching.
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: | 70459 |
| Size: | 1 bp |
| Located at: | β |
| Specific Location: | Promoter |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | Promoter (Transcription) |
| Ethnic Origin: | Thai, Lebanese, Syrian |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | Yes |
In silico pathogenicity prediction
Sequence Viewer
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Frequencies
Publications / Origin
- Kazazian HH, The thalassemia syndromes: molecular basis and prenatal diagnosis in 1990., Seminars in hematology, 27(3), 209-28, 1990 PubMed
- Thein SL, Winichagoon P, Hesketh C, Best S, Fucharoen S, Wasi P, Weatherall DJ, The molecular basis of beta-thalassemia in Thailand: application to prenatal diagnosis., American journal of human genetics, 47(3), 369-75, 1990 PubMed
- Moassas F, Alabloog A, Murad H, Description of a Rare β-Globin Gene Mutation: -86 (C>G) (HBB: c.-136C>G) Observed in a Syrian Family., Hemoglobin, 42(3), 203-205, 2018 PubMed
Created on 2010-06-16 16:13:14,
Last reviewed on 2019-05-09 13:09:46 (Show full history)
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