IthaID: 1257



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 132 AAA>CAA [Lys>Gln] HGVS Name: HBB:c.397A>C
Hb Name: Hb K Woolwich Protein Info: β 132(H10) Lys>Gln

Context nucleotide sequence:
CCCACCAGTGCAGGCTGCCTATCAG [A/C/G/T] AAGTGGTGGCTGGTGTGGCTAATGC (Strand: -)

Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFATLSELHCDKLHVDPENFRLLGNVLVCVLAHHFGKEFTPPVQAAYQQVVAGVANALAHKYH

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 71971
Size: 1 bp
Located at: β
Specific Location: Exon 3

Phenotype

Hemoglobinopathy Group: Thalassaemia and Structural Haemoglobinopathy
Hemoglobinopathy Subgroup: β-thalassaemia, β-chain variant
Allele Phenotype:Dominant
Stability: N/A
Oxygen Affinity: N/A
Associated Phenotypes: Haemolytic anaemia [HP:0001878]
Ineffective erythropoiesis [HP:0010972]

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: Missense codons (Protein Structure)
Ethnic Origin: African
Inheritance: Dominant
DNA Sequence Determined: No
Detection Methods: Direct DNA sequencing

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
141Hb K WoolwichβD-10Dual Kit Program33.50.65
144Hb K WoolwichβVARIANT IIDual Kit Program37.20.859Clinically and hematologically normal.[PDF]
142Hb K WoolwichβVARIANTβ-thal Short Program35.21.29Clinically and hematologically normal.[PDF]
143Hb K WoolwichβVARIANT IIβ-thal Short Program34.41.29Clinically and hematologically normal.[PDF]

Sequence Viewer

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Publications / Origin

  1. Ringelhann B, Konotey-Ahulu FI, Talapatra NC, Nkrumah FK, Wiltshire BG, Lehmann H, Haemoglobin K Woolwich (alpha 2, beta 2 132 lysine leads to glutamine) in Ghana., Acta haematologica, 45(4), 250-8, 1971 PubMed
  2. Cabannes R, Amegnizin P, Sangare A, Arne D, Casey R, Lehmann H, Haemoglobin K Woolwich: a study of the family of a homozygote., J. Med. Genet. , 17(3), 183-6, 1980 PubMed
Created on 2010-06-16 16:13:17, Last reviewed on 2014-05-09 09:17:17 (Show full history)

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