IthaID: 1119
Names and Sequences
Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
---|---|---|---|
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
Location
Chromosome: | 11 |
---|---|
Locus: | NG_000007.3 |
Locus Location: | 71010 |
Size: | 1 bp |
Located at: | β |
Specific Location: | Exon 2 |
Phenotype
Hemoglobinopathy Group: | Structural Haemoglobinopathy |
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Hemoglobinopathy Subgroup: | β-chain variant |
Allele Phenotype: | N/A |
Stability: | N/A |
Oxygen Affinity: | N/A |
Associated Phenotypes: | N/A |
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
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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] |
Sequence Viewer
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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 2017-04-18 12:48:09 (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. |
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IthaGenes was last updated on 2021-01-15 14:32:59