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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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
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
- 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
- Gottlieb AJ, Robinson EA, Itano HA, Primary structure of Hopkins-1 haemoglobin., Nature , 214(5084), 189-90, 1967
- Johnson C, Powars D, Schroeder WA, A case with both hemoglobins C and N-Baltimore., Acta Haematol. , 56(3), 183-8, 1976
Created on 2010-06-16 16:13:16,
Last reviewed on 2023-02-20 10:02:07 (Show full history)
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