IthaID: 10
Names and Sequences
Functionality: | Globin gene causative mutation | Pathogenicity: | Pathogenic / Likely Pathogenic |
---|---|---|---|
Common Name: | -87 C>G | HGVS Name: | HBB:c.-137C>G |
Hb Name: | N/A | Protein Info: | β nt -87 C>G |
Context nucleotide sequence:
TAGACCTCACCCTGTGGAGCCACAC [A/C/G/T] CTAGGGTTGGCCAATCTACTCCCAG (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: | 70458 |
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: | Mediterranean |
Molecular mechanism: | N/A |
Inheritance: | Recessive |
DNA Sequence Determined: | Yes |
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
- Treisman R, Orkin SH, Maniatis T, Specific transcription and RNA splicing defects in five cloned beta-thalassaemia genes., Nature, 302(5909), 591-6, 1983 PubMed
- Diaz-Chico JC, Yang KG, Stoming TA, Efremov DG, Kutlar A, Kutlar F, Aksoy M, Altay C, Gurgey A, Kilinc Y, Mild and severe beta-thalassemia among homozygotes from Turkey: identification of the types by hybridization of amplified DNA with synthetic probes., Blood , 71(1), 248-51, 1988 PubMed
- Camaschella C, Alfarano A, Gottardi E, Serra A, Revello D, Saglio G, The homozygous state for the -87 C----G beta + thalassaemia., Br. J. Haematol. , 75(1), 132-3, 1990 PubMed
- Gilman JG, Manca L, Frogheri L, Pistidda P, Guiso L, Longinotti M, Masala B, Mild beta+(-87)-thalassemia CACCC box mutation is associated with elevated fetal hemoglobin expression in cis., Am. J. Hematol. , 45(3), 265-7, 1994 PubMed
- Ilhan O, Beksaç M, Koç H, Akan H, Keskin A, Arslan O, Gürman G, Ozcan M, Konuk N, Uysal A, HLA-DR frequency in Turkish aplastic anemia patients and the impact of HLA-DR2 positivity in response rate in patients receiving immunosuppressive therapy., Blood , 86(5), 2055, 1995 PubMed
Created on 2010-06-16 16:13:14,
Last reviewed on 2019-11-04 14:01:24 (Show full history)
A/A | Date | Curator(s) | Comments |
---|---|---|---|
1 | 2010-06-16 16:13:14 | The IthaGenes Curation Team | Created |
2 | 2013-10-15 17:28:32 | The IthaGenes Curation Team | Reviewed. |
3 | 2014-05-16 12:16:50 | The IthaGenes Curation Team | Reviewed. Additional references and ClinVar link added. |
4 | 2019-11-04 14:01:24 | The IthaGenes Curation Team | Reviewed. Reference list edited. |
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IthaGenes was last updated on 2024-10-08 13:09:20