IthaID: 1403
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | N/A | HGVS Name: | NG_000007.3:g.63632_71046dup |
| Hb Name: | Hb P-India | Protein Info: | βδ hybrid (β through 87; δ from 116) |
Also known as: Hb Anti-Lepore P-India
Comments: Anti-Lepore βδ hybrid. Crossover between codon 87 (β) and the 7th nt of the IVS-II (δ)
We follow the HGVS sequence variant nomenclature and IUPAC standards.
External Links
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: | 63632 |
| Size: | 7.414 kb |
| Fusion involves: | δ, β |
Other details
| Type of Mutation: | Fusion |
|---|---|
| Ethnic Origin: | 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
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Publications / Origin
To the best of our knowledge, this is unpublished data. Please use with caution!
Created on 2010-06-16 16:13:17,
Last reviewed on 2021-11-23 12:58:16 (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 | 2014-04-16 17:18:52 | The IthaGenes Curation Team | Reviewed. Added size. |
| 4 | 2015-12-07 16:00:50 | The IthaGenes Curation Team | Reviewed. |
| 5 | 2015-12-07 16:30:28 | The IthaGenes Curation Team | Reviewed. |
| 6 | 2021-11-23 12:58:16 | The IthaGenes Curation Team | Reviewed. Type of variant corrected. |
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IthaGenes was last updated on 2024-11-20 13:24:07