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
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
Created on 2010-06-16 16:13:17,
Last reviewed on 2021-12-03 08:48:09 (Show full history)
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