IthaID: 100
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Pathogenic / Likely Pathogenic |
|---|---|---|---|
| Common Name: | CD 30 (G>C) or IVS I (-1) AGG>ACG (Arg>Thr) | HGVS Name: | HBB:c.92G>C |
| Hb Name: | Hb Monroe | Protein Info: | β 30(B12) Arg>Thr |
Context nucleotide sequence:
GAAGTTGGTGGTGAGGCCCTGGGCA [A/C/G] GTTGGTATCAAGGTTACAAGACAGG (Strand: -)
Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEALGTLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFATLSELHCDKLHVDPENFRLLGNVLVCVLAHHFGKEFTPPVQAAYQKVVAGVANALAHKYH
Also known as: Hb Kairouan
We follow the HGVS sequence variant nomenclature and IUPAC standards.
Phenotype
| Hemoglobinopathy Group: | Thalassaemia and Structural Haemoglobinopathy |
|---|---|
| Hemoglobinopathy Subgroup: | β-thalassaemia, β-chain variant |
| Allele Phenotype: | β0 Thalassaemia |
| Stability: | Unstable |
| Oxygen Affinity: | N/A |
| Associated Phenotypes: |
Haemolytic anaemia [HP:0001878] Ineffective erythropoiesis [HP:0010972] |
Location
| Chromosome: | 11 |
|---|---|
| Locus: | NG_000007.3 |
| Locus Location: | 70686 |
| Size: | 1 bp |
| Located at: | β |
| Specific Location: | Intron 1 |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | Splice junction (mRNA Processing) |
| Ethnic Origin: | Mediterranean, African-American, N Africans, Kurds, UAE, African, Libyan, Tunisian, Pakistani |
| 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
- Chibani J, Vidaud M, Duquesnoy P, Bergé-Lefranc JL, Pirastu M, Ellouze F, Rosa J, Goossens M, The peculiar spectrum of beta-thalassemia genes in Tunisia., Human genetics, 78(2), 190-2, 1988 PubMed
- Gonzalez-Redondo JM, Stoming TA, Kutlar F, Kutlar A, Hu H, Wilson JB, Huisman TH, Hb Monroe or alpha 2 beta 230(B12)Arg----Thr, a variant associated with beta-thalassemia due to A G----C substitution adjacent to the donor splice site of the first intron., Hemoglobin, 13(1), 67-74, 1989 PubMed
- Vidaud M, Gattoni R, Stevenin J, Vidaud D, Amselem S, Chibani J, Rosa J, Goossens M, A 5' splice-region G----C mutation in exon 1 of the human beta-globin gene inhibits pre-mRNA splicing: a mechanism for beta+-thalassemia., Proceedings of the National Academy of Sciences of the United States of America, 86(3), 1041-5, 1989 PubMed
- Rund D, Cohen T, Filon D, Dowling CE, Warren TC, Barak I, Rachmilewitz E, Kazazian HH, Oppenheim A, Evolution of a genetic disease in an ethnic isolate: beta-thalassemia in the Jews of Kurdistan., Proceedings of the National Academy of Sciences of the United States of America, 88(1), 310-4, 1991 PubMed
- Bennani C, Bouhass R, Perrin-Pecontal P, Tamouza R, Malou M, Elion J, Trabuchet G, Beldjord C, Benabadji M, Labie D, Anthropological approach to the heterogeneity of beta-thalassemia mutations in northern Africa., Human biology; an international record of research, 66(3), 369-82, 1994 PubMed
- el-Kalla S, Mathews AR, A significant beta-thalassemia heterogeneity in the United Arab Emirates., Hemoglobin, 21(3), 237-47, 1997 PubMed
- Yasmeen H, Toma S, Killeen N, Hasnain S, Foroni L, The molecular characterization of Beta globin gene in thalassemia patients reveals rare and a novel mutations in Pakistani population., Eur J Med Genet , 59(8), 355-62, 2016 PubMed
Created on 2010-06-16 16:13:14,
Last reviewed on 2022-10-27 12:20:44 (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 17:00:14 | The IthaGenes Curation Team | Reviewed. |
| 3 | 2016-09-02 14:23:16 | The IthaGenes Curation Team | Reviewed. Origin and Reference added. |
| 4 | 2022-10-27 12:20:44 | The IthaGenes Curation Team | Reviewed. Synonym name and paper added. |
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