IthaID: 159
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Pathogenic / Likely Pathogenic |
|---|---|---|---|
| Common Name: | CD 51 (-C) | HGVS Name: | HBB:c.155delC |
| Hb Name: | N/A | Protein Info: | β 51 (-C); modified C-terminal sequence: (51)Leu-Met-Leu-Leu-Trp-Ala-Thr-Leu-(59)Arg-COOH |
Context nucleotide sequence:
TGAGTCCTTTGGGGATCTGTCCACTC [-/C] TGATGCTGTTATGGGCAACCCTAA (Strand: -)
Also known as:
Comments: Found in a Hungarian proband who had the characteristics of a β0-thalassaemia heterozygote.
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: | 70879 |
| 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: | Hungarian |
| 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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Publications / Origin
- Ringelhann B, Szelenyi JG, Horanyi M, Svobodova M, Divoky V, Indrak K, Hollân S, Marosi A, Laub M, Huisman TH, Molecular characterization of beta-thalassemia in Hungary., Human genetics, 92(4), 385-7, 1993 PubMed
Created on 2010-06-16 16:13:15,
Last reviewed on 2019-11-07 09:34:51 (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 | 2014-04-26 03:09:39 | The IthaGenes Curation Team | Reviewed. Corrected common name. |
| 4 | 2019-11-07 09:34:51 | The IthaGenes Curation Team | Reviewed. HGVS name and Location corrected. dbSNP link removed. Comment added. |
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IthaGenes was last updated on 2024-04-18 10:10:45