IthaID: 1402
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | N/A | HGVS Name: | NG_000007.3:g.64557_71923dup |
| Hb Name: | Hb P-Congo | Protein Info: | βδ hybrid (β through 22; δ from 116) |
Also known as: Hb Anti-Lepore P-Congo
Comments: Anti-Lepore βδ hybrid. Crossover between codon 22 (β) and codon 116 (δ)
We follow the HGVS sequence variant nomenclature and IUPAC standards.
Phenotype
| Hemoglobinopathy Group: | Structural Haemoglobinopathy |
|---|---|
| Hemoglobinopathy Subgroup: | δ-chain variant |
| Allele Phenotype: | δβ fusion |
| Stability: | N/A |
| Oxygen Affinity: | N/A |
| Associated Phenotypes: | N/A |
Location
| Chromosome: | 11 |
|---|---|
| Locus: | NG_000007.3 |
| Locus Location: | 64557 |
| Size: | 7.366 kb |
| Fusion involves: | δ, β |
Other details
| Type of Mutation: | Fusion |
|---|---|
| Ethnic Origin: | Congolese |
| 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
- Lehmann H, Charlesworth D, Observations on haemoglobin P (Congo type)., The Biochemical journal, 119(5), 43P, 1970 PubMed
Created on 2010-06-16 16:13:17,
Last reviewed on 2021-11-23 12:57:16 (Show full history)
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2010-06-16 16:13:17 | The IthaGenes Curation Team | Created |
| 2 | 2013-10-15 17:00:14 | The IthaGenes Curation Team | Reviewed. |
| 3 | 2015-12-07 15:11:33 | The IthaGenes Curation Team | Reviewed. |
| 4 | 2015-12-07 15:37:44 | The IthaGenes Curation Team | Reviewed. Mutation type updated |
| 5 | 2015-12-07 16:26:51 | The IthaGenes Curation Team | Reviewed. |
| 6 | 2021-11-23 12:57:16 | The IthaGenes Curation Team | Reviewed. Type of variant corrected. |
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IthaGenes was last updated on 2024-11-20 13:24:07