IthaID: 156
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Pathogenic / Likely Pathogenic |
|---|---|---|---|
| Common Name: | CD 47/48 (+ATCT) | HGVS Name: | HBB:c.143_146dupATCT |
| Hb Name: | N/A | Protein Info: | N/A |
Context nucleotide sequence:
GGTTCTTTGAGTCCTTTGGGGATCT [-/ATCT] GTCCACTCCTGATGCTGTTATGGGC (Strand: -)
Also known as:
Comments: Found in one Punjabi Indian patient [PMID: 8199027]. Found in members of a Sikh family from United Arab Emirates. The proband was compound heterozygote for this deletion and a β0 allele (HBB:c.174_175insC), whereas his father and sisten had beta-thalassaemia trait [PMID: 7558874].
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: | 70867 |
| Size: | 4 bp |
| Located at: | β |
| Specific Location: | Exon 2 |
Other details
| Type of Mutation: | Point-Mutation(Insertion) |
|---|---|
| Effect on Gene/Protein Function: | Frameshift (Translation) |
| Ethnic Origin: | 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
- Garewal G, Fearon CW, Warren TC, Marwaha N, Marwaha RK, Mahadik C, Kazazian HH, The molecular basis of beta thalassaemia in Punjabi and Maharashtran Indians includes a multilocus aetiology involving triplicated alpha-globin loci., British journal of haematology, 86(2), 372-6, 1994 PubMed
- el-Kalla S, Mathews AR, A novel frameshift mutation causing beta-thalassemia in a Sikh., Hemoglobin, 19(3), 183-9, 1995 PubMed
Created on 2010-06-16 16:13:15,
Last reviewed on 2019-11-12 12:50:29 (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 | 2019-11-12 12:50:29 | The IthaGenes Curation Team | Reviewed. Mutation names, Location and Size corrected. Comment added. |
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IthaGenes was last updated on 2024-11-20 13:24:07