IthaID: 2482
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | CD 137 -GTG [-Val] | HGVS Name: | HBD:c.412_414delGTG |
| Hb Name: | Hb Lincoln Park | Protein Info: | δ 137(H15) Val->0 |
Context nucleotide sequence:
TGCCTATCAGAAGGTGGTGGCTGGT [-/GTG] GCTAATGCCCTGGCTCACAAGTACC (Strand: -)
Also known as: Hb Anti-Lepore Lincoln Park
Comments: A δβ fusion (anti-Lepore) variant with an amino acid deletion in the δ chain-derived segment. Hb Lincoln Park is identical to HbP-Nilotic but is associated with reticulocytosis. It contains a deletion of
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: | Haemolytic anaemia [HP:0001878] |
Location
| Chromosome: | 11 |
|---|---|
| Locus: | NG_000007.3 |
| Locus Location: | 64620 |
| Size: | 3 bp |
| Located at: | δ |
| Specific Location: | Exon 3 |
Other details
| Type of Mutation: | Point-Mutation(Deletion) |
|---|---|
| Effect on Gene/Protein Function: | N/A |
| Ethnic Origin: | Mexican |
| 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
- Honig GR, Shamsuddin M, Mason RG, Vida LN, Hemoglobin Lincoln Park: a betadelta fusion (anti-Lepore) variant with an amino acid deletion in the delta chain-derived segment., Proc. Natl. Acad. Sci. U.S.A. , 75(3), 1475-9, 1978 PubMed
- Honig GR, Mason RG, Tremaine LM, Vida LN, Unbalanced globin chain synthesis by Hb Lincoln Park (anti-Lepore) reticulocytes., Am. J. Hematol. , 5(4), 335-40, 1978 PubMed
Created on 2014-06-04 13:38:35,
Last reviewed on 2018-04-17 09:20:37 (Show full history)
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2014-06-04 13:38:35 | The IthaGenes Curation Team | Created |
| 2 | 2015-12-07 16:55:27 | The IthaGenes Curation Team | Reviewed. |
| 3 | 2018-04-17 09:20:37 | The IthaGenes Curation Team | Reviewed. Location corrected |
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IthaGenes was last updated on 2024-11-20 13:24:07