IthaID: 55
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | CD 4/5/6: CD 4 (ACT>ACA), CD 5 (CCT>TCT), CD 6 (GAG>TAG) | HGVS Name: | HBB:c.[15T>A;16C>T;19G>T] |
| Hb Name: | N/A | Protein Info: | N/A |
Also known as:
We follow the HGVS sequence variant nomenclature and IUPAC standards.
External Links
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: | 70609 or 70610 or 70613 |
| Size: | 1 bp or 1 bp or 1 bp |
| Located at: | β |
| Specific Location: | Exon 1 |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | Nonsense codon (Translation), Missense codons (Protein Structure) |
| Ethnic Origin: | Indian |
| 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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Publications / Origin
- Agarwal S, Wei L, Hattori Y, Agarwal SS, Codon 4 ACT-->ACA, codon 5 CCT-->TCT, and codon 6 GAG-->TAG mutations in cis position: a form of thalassemia trait., Am. J. Hematol. , 56(3), 187-8, 1997 PubMed
- Saxena R, Moi L, Demurtas M, Rosatelli MC, Cao A, Verma IC, A beta-thalassaemia allele with 3 base substitution in codons 4/5 & 6 (ACT CCT GAG-> ACA TCT TAG) detected by denaturing gradient gel electrophoresis & sequencing., Indian J. Med. Res. , 111(0), 24-7, 2000 PubMed
Created on 2010-06-16 16:13:14,
Last reviewed on 2017-05-29 11:48:18 (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 | 2016-11-25 15:00:08 | The IthaGenes Curation Team | Reviewed. References added; Ethnic origin corrected. |
| 4 | 2016-11-25 15:01:43 | The IthaGenes Curation Team | Reviewed. Location corrected |
| 5 | 2017-05-29 11:48:18 | The IthaGenes Curation Team | Reviewed. Mutation Names & DNA Info and Location sections updated. |
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IthaGenes was last updated on 2024-11-20 13:24:07