IthaID: 1274



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 138 GCT>CCT [Ala>Pro] HGVS Name: HBB:c.415G>C
Hb Name: Hb Brockton Protein Info: β 138(H16) Ala>Pro

Context nucleotide sequence:
CTATCAGAAAGTGGTGGCTGGTGTG [A/C/G] CTAATGCCCTGGCCCACAAGTATCA (Strand: -)

Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFATLSELHCDKLHVDPENFRLLGNVLVCVLAHHFGKEFTPPVQAAYQKVVAGVPNALAHKYH

Comments: The substituted proline disrupts intermolecular hydrogen bonding between β138Ala and β134Val in helix H, producing an unstable haemoglobin variant with a propensity to precipitate and aggregate. Variant does not show altered O2 binding affinity or electrophoretic mobility shifts.

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 71989
Size: 1 bp
Located at: β
Specific Location: Exon 3

Phenotype

Hemoglobinopathy Group: Structural Haemoglobinopathy
Hemoglobinopathy Subgroup: β-chain variant
Allele Phenotype:N/A
Stability: Unstable
Oxygen Affinity: N/A
Associated Phenotypes: Haemolytic anaemia [HP:0001878]

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: Missense codons (Protein Structure)
Ethnic Origin: Caucasian, Chinese, Turkish
Inheritance: Recessive
DNA Sequence Determined: Yes
Detection Methods: Direct DNA sequencing

Sequence Viewer

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Publications / Origin

  1. Ulukutlu L, Ozsahin H, Wilson JB, Webber BB, Hu H, Kutlar A, Kutlar F, Huisman TH, Hb Brockton [alpha 2 beta 2138(H16)Ala----Pro] observed in a Turkish girl., Hemoglobin, 13(5), 509-13, 1989 PubMed
  2. Thom CS, Dickson CF, Gell DA, Weiss MJ, Hemoglobin variants: biochemical properties and clinical correlates., Cold Spring Harb Perspect Med, 3(3), a011858, 2013 PubMed
Created on 2010-06-16 16:13:17, Last reviewed on 2019-06-19 12:15:00 (Show full history)

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