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

External Links

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. Bio-Rad Laboratories, Inc and the ITHANET Portal disclaim responsibility and have no liability if this information is used for diagnostic or treatment purposes. 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
404Hb N-BaltimoreβVARIANTβ-thal Short Program83.71.65[PDF]
556Hb N-BaltimoreβD-10Dual Kit Program80.81.46Hb N-Baltimore / Beta zero thalassaemia. Clinical normal. [PDF]
557Hb N-BaltimoreβVARIANT IIβ-thal Short Program81.31.61Hb N-Baltimore / Beta zero thalassaemia. Clinical normal. [PDF]
558Hb N-BaltimoreβVARIANT IIDual Kit Program791.535Hb N-Baltimore / Beta zero thalassaemia. Clinical normal. [PDF]

Publications / Origin

  1. 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
  2. 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
  3. Gottlieb AJ, Robinson EA, Itano HA, Primary structure of Hopkins-1 haemoglobin., Nature , 214(5084), 189-90, 1967
  4. 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 2017-04-18 12:48:09 (Show full history)

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