IthaID: 1401
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | N/A | HGVS Name: | NG_000007.3:g.63249_70661dup |
| Hb Name: | Hb Miyada | Protein Info: | β-δ hybrid (β through 12; δ from 22) |
Also known as: Hb Anti-Lepore Miyada
Comments: Anti-Lepore βδ hybrid. Crossover between codon 12 (β) and codon 22 (δ).
We follow the HGVS sequence variant nomenclature and IUPAC standards.
Phenotype
| Hemoglobinopathy Group: | Structural Haemoglobinopathy |
|---|---|
| Hemoglobinopathy Subgroup: | N/A |
| Allele Phenotype: | δβ fusion |
| Stability: | N/A |
| Oxygen Affinity: | N/A |
| Associated Phenotypes: | N/A |
Location
| Chromosome: | 11 |
|---|---|
| Locus: | NG_000007.3 |
| Locus Location: | 63249 |
| Size: | 7.412 kb |
| Fusion involves: | δ, β |
Other details
| Type of Mutation: | Fusion |
|---|---|
| Ethnic Origin: | Japanese |
| 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
- Ohta Y, Yamaoka K, Sumida I, Yanase T, Haemoglobin Miyada, a beta-delta fusion peptide (anti-Lepore) type discovered in a Japanese family., Nature: New biology, 234(50), 218-20, 1971 PubMed
Created on 2010-06-16 16:13:17,
Last reviewed on 2021-12-03 08:48:09 (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 14:37:10 | The IthaGenes Curation Team | Reviewed. |
| 4 | 2015-12-07 15:32:56 | The IthaGenes Curation Team | Reviewed. |
| 5 | 2015-12-07 15:33:46 | The IthaGenes Curation Team | Reviewed. |
| 6 | 2015-12-07 15:36:29 | The IthaGenes Curation Team | Reviewed. |
| 7 | 2015-12-07 16:25:58 | The IthaGenes Curation Team | Reviewed. |
| 8 | 2021-11-23 12:54:12 | The IthaGenes Curation Team | Reviewed. Type of variant corrected. |
| 9 | 2021-12-03 08:48:09 | The IthaGenes Curation Team | Reviewed. |
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IthaGenes was last updated on 2024-11-20 13:24:07