IthaID: 1119
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Variant of Uncertain Significance |
|---|---|---|---|
| Common Name: | CD 95 AAG>GAG | HGVS Name: | HBB:c.286A>G |
| Hb Name: | Hb N-Baltimore | Protein Info: | β 95(FG2) Lys>Glu |
Context nucleotide sequence:
CACACTGAGTGAGCTGCACTGTGAC [A/G] AGCTGCACGTGGATCCTGAGAACTT (Strand: -)
Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFATLSELHCDELHVDPENFRLLGNVLVCVLAHHFGKEFTPPVQAAYQKVVAGVANALAHKYH
Also known as: Hb Hopkins-I, Hb Jenkins, Hb N-Memphis, Hb Kenwood
We follow the HGVS sequence variant nomenclature and IUPAC standards.
Phenotype
| Hemoglobinopathy Group: | Structural Haemoglobinopathy |
|---|---|
| Hemoglobinopathy Subgroup: | β-chain variant |
| Allele Phenotype: | N/A |
| Stability: | N/A |
| Oxygen Affinity: | N/A |
| Associated Phenotypes: | N/A |
Location
| Chromosome: | 11 |
|---|---|
| Locus: | NG_000007.3 |
| Locus Location: | 71010 |
| Size: | 1 bp |
| Located at: | β |
| Specific Location: | Exon 2 |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | N/A |
| Ethnic Origin: | African |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | Yes |
HPLC
Disclaimer: The HPLC images are provided as an information resource only.
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D-10™ and VARIANT™ are registered trademarks of Bio-Rad Laboratories, Inc. and used with permission.
Redistribution and use of the above material is allowed only with permission by Bio-Rad Laboratories, Inc.
To access HPLC images and reports for different variants, use the IthaChrom tool.
| ID | Hb Variant | Gene | Instrument | Method | Area (%) | Ret Time (min) | Comments | ||
|---|---|---|---|---|---|---|---|---|---|
| 404 | Hb N-Baltimore | β | VARIANT | β-thal Short Program | 83.7 | 1.65 | [PDF] | ||
| 556 | Hb N-Baltimore | β | D-10 | Dual Kit Program | 80.8 | 1.46 | Hb N-Baltimore / Beta zero thalassaemia. Clinical normal. | [PDF] | |
| 557 | Hb N-Baltimore | β | VARIANT II | β-thal Short Program | 81.3 | 1.61 | Hb N-Baltimore / Beta zero thalassaemia. Clinical normal. | [PDF] | |
| 558 | Hb N-Baltimore | β | VARIANT II | Dual Kit Program | 79 | 1.535 | Hb N-Baltimore / Beta zero thalassaemia. Clinical normal. | [PDF] |
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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In such a case, please Refresh the page or retry at a later stage.
Otherwise, use this external link.
Publications / Origin
- Clegg JB, Naughton MA, Weatherall DJ, An improved method for the characterization of human haemoglobin mutants: identification of alpha-2-beta-2-95GLU, haemoglobin N (Baltimore)., Nature, 207(5000), 945-7, 1965 PubMed
- Dobbs NB, Simmons JW, Wilson JB, Huisman TH, Hemoglobin Jenkins or hemoglobin-N-Baltimore or alpha-2-beta-2 95Glu., Biochim. Biophys. Acta , 117(2), 492-4, 1966 PubMed
- Gottlieb AJ, Robinson EA, Itano HA, Primary structure of Hopkins-1 haemoglobin., Nature , 214(5084), 189-90, 1967 PubMed
- Johnson C, Powars D, Schroeder WA, A case with both hemoglobins C and N-Baltimore., Acta Haematol. , 56(3), 183-8, 1976 PubMed
Created on 2010-06-16 16:13:16,
Last reviewed on 2023-02-20 10:02:07 (Show full history)
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2010-06-16 16:13:16 | The IthaGenes Curation Team | Created |
| 2 | 2013-10-15 17:00:14 | The IthaGenes Curation Team | Reviewed. |
| 3 | 2017-04-18 12:48:09 | The IthaGenes Curation Team | Reviewed. Mutation Names/DNA Info added. References added. |
| 4 | 2023-02-20 10:00:06 | The IthaGenes Curation Team | Reviewed. Link added |
| 5 | 2023-02-20 10:02:07 | The IthaGenes Curation Team | Reviewed. |
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IthaGenes was last updated on 2024-12-03 11:48:06