IthaID: 151
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Pathogenic / Likely Pathogenic |
|---|---|---|---|
| Common Name: | CD 44 -C | HGVS Name: | HBB:c.135delC |
| Hb Name: | N/A | Protein Info: | β 44 (-C); modified C-terminal sequence: (44)Ser-Leu-Gly-Ile-Cys-Pro-Leu-Leu-Met-Leu- Leu-Trp-Ala-Thr-Leu-(59)Arg-COOH |
Context nucleotide sequence:
CTTGGACCCAGAGGTTCTTTGAGTC [-/C] TTTGGGGATCTGTCCACTCCTGATG (Strand: -)
Also known as:
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: | 70859 |
| Size: | 1 bp |
| Located at: | β |
| Specific Location: | Exon 2 |
Other details
| Type of Mutation: | Point-Mutation(Deletion) |
|---|---|
| Effect on Gene/Protein Function: | Frameshift (Translation) |
| Ethnic Origin: | Kurdish |
| 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
- Kinniburgh AJ, Maquat LE, Schedl T, Rachmilewitz E, Ross J, mRNA-deficient beta o-thalassemia results from a single nucleotide deletion., Nucleic acids research, 10(18), 5421-7, 1982 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
Created on 2010-06-16 16:13:15,
Last reviewed on 2014-05-12 09:26:13 (Show full history)
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2010-06-16 16:13:15 | The IthaGenes Curation Team | Created |
| 2 | 2013-10-15 17:28:32 | The IthaGenes Curation Team | Reviewed. |
| 3 | 2014-05-12 09:26:13 | The IthaGenes Curation Team | Reviewed. Common name corrected. |
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IthaGenes was last updated on 2024-11-20 13:24:07