IthaID: 99
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Pathogenic / Likely Pathogenic |
|---|---|---|---|
| Common Name: | CD 30 (G>A) or IVS I (-1) AGG>AAG (Arg>Lys) | HGVS Name: | HBB:c.92G>A |
| Hb Name: | N/A | Protein Info: | N/A |
Context nucleotide sequence:
GAAGTTGGTGGTGAGGCCCTGGGCA [G/A] GTTGGTATCAAGGTTACAAGACAGG (Strand: -)
Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEALGKLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFATLSELHCDKLHVDPENFRLLGNVLVCVLAHHFGKEFTPPVQAAYQKVVAGVANALAHKYH
Also known as:
Comments: The G>A substitution change the second base of the last nucleotide of exon 1, which is part of the consensus splice site for the exon.
We follow the HGVS sequence variant nomenclature and IUPAC standards.
Phenotype
| Hemoglobinopathy Group: | Thalassaemia |
|---|---|
| Hemoglobinopathy Subgroup: | β-thalassaemia |
| Allele Phenotype: | β0 |
| 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: | Exon 1 |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | Splice junction (mRNA Processing) |
| Ethnic Origin: | African-Cubans, Indian, Asian Indian |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | No |
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
- 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
- Varawalla NY, Old JM, Weatherall DJ, Rare beta-thalassaemia mutations in Asian indians., British journal of haematology, 79(4), 640-4, 1991 PubMed
- Muñiz A, Martinez G, Lavinha J, Pacheco P, Beta-thalassaemia in Cubans: novel allele increases the genetic diversity at the HBB locus in the Caribbean., Am. J. Hematol. , 64(1), 7-14, 2000 PubMed
- Colah R, Gorakshakar A, Nadkarni A, Phanasgaonkar S, Surve R, Sawant P, Mohanty D, Ghosh K, Regional heterogeneity of beta-thalassemia mutations in the multi ethnic Indian population., Blood Cells Mol. Dis. , 42(3), 241-6, 2009 PubMed
Created on 2010-06-16 16:13:14,
Last reviewed on 2022-11-10 10:29:05 (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 | 2022-11-10 10:25:50 | The IthaGenes Curation Team | Reviewed. Reference and origin corrected. |
| 4 | 2022-11-10 10:29:05 | The IthaGenes Curation Team | Reviewed. Comment added. |
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IthaGenes was last updated on 2024-11-20 13:24:07