IthaID: 1397
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | N/A | HGVS Name: | NG_000007.3:g.63290_70702del |
| Hb Name: | Hb Lepore-Hollandia | Protein Info: | δ-β hybrid (δ through 22; β from 50) |
Also known as:
We follow the HGVS sequence variant nomenclature and IUPAC standards.
Phenotype
| Hemoglobinopathy Group: | Thalassaemia and Structural Haemoglobinopathy |
|---|---|
| Hemoglobinopathy Subgroup: | δβ-thalassaemia |
| Allele Phenotype: | δβ fusion |
| Stability: | N/A |
| Oxygen Affinity: | N/A |
| Associated Phenotypes: | N/A |
Location
| Chromosome: | 11 |
|---|---|
| Locus: | NG_000007.3 |
| Locus Location: | 63290 |
| Size: | 7.398 kb |
| Fusion involves: | δ, β |
Other details
| Type of Mutation: | Fusion |
|---|---|
| Ethnic Origin: | Papuan New Guinea, Canadian, Bangladeshi, 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
Note: The NCBI Sequence Viewer is not installed on the ITHANET servers but it is embedded in this page from the NCBI.
Therefore, IthaGenes has no responsibility over any temporary unavailability of the service.
In such a case, please Refresh the page or retry at a later stage.
Otherwise, use this external link.
Publications / Origin
- McDonald MJ, Noble RW, Sharma VS, Ranney HM, Crookston JH, Schwartz JM, A comparison of the functional properties of two lepore hemoglobins with those of hemoglobin A1., Journal of molecular biology, 94(2), 305-10, 1975 PubMed
- Waye JS, Eng B, Patterson M, Chui DH, Chang LS, Cogionis B, Poon AO, Olivieri NF, Hb E/Hb LeporeHollandia in a family from Bangladesh., American journal of hematology, 47(4), 262-5, 1994 PubMed
- Sreedharanunni Sreejesh,Chhabra Sanjeev,Hira JasbirKaur,Bansal Deepak,Sharma Prashant,Das Reena, β-Thalassemia Intermedia Caused by Compound Heterozygosity for Hb Lepore-Hollandia and β-Thalassemia is Rare in the Indian Population., Hemoglobin, 5(5), 362-5, 2016 PubMed
Created on 2010-06-16 16:13:17,
Last reviewed on 2021-11-25 16:04:16 (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 | 2021-03-22 17:46:08 | The IthaGenes Curation Team | Reviewed. Reference added. |
| 4 | 2021-11-25 16:04:16 | The IthaGenes Curation Team | Reviewed. |
Disclaimer: The information on this website is provided as an information resource only
and must not to be used as a substitute for professional diagnosis and treatment.
The ITHANET Portal and IthaGenes are not responsible or liable for any advice, course of treatment,
diagnosis or any other information, services or products that an individual obtains through this website.
IthaGenes was last updated on 2024-11-20 13:24:07