IthaID: 1180



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 111 GTC>TTC [Val>Phe] HGVS Name: HBB:c.334G>T
Hb Name: Hb Peterborough Protein Info: β 111(G13) Val>Phe

Context nucleotide sequence:
CCCACAGCTCCTGGGCAACGTGCTG [C/G/T] TCTGTGTGCTGGCCCATCACTTTGG (Strand: -)

Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFATLSELHCDKLHVDPENFRLLGNVLFCVLAHHFGKEFTPPVQAAYQKVVAGVANALAHKYH

Comments: Described as an unstable haemoglobin (Hb) with reduced oxygen affinity in a family heterozygous for Hb A/Hb Lepore. Alteration of the α1β1 interface, favouring the formation of monomers with subsequent accumulation of free globin subunits. The bulkier residue of phenylalanine at position G13 can be accomodated in the α1β1 interface by displacing the side chain of glutamine β127 (H5) in the deoxy-form of haemoglobin. This is not possible in the oxy-form of haemoglobin. Hence, Phe substitution favours the deoxy-form, causing Hb Peterborough to have a low oxygen affinity.

External Links

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 71908
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: Decreased Oxygen Affinity
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: Italian
Inheritance: Recessive
DNA Sequence Determined: Yes
Detection Methods: Direct DNA sequencing

Sequence Viewer

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Publications / Origin

  1. King MA, Wiltshire BG, Lehmann H, Morimoto H, An unstable haemoglobin with reduced oxygen affinity: haemoglobin Peterborough, 3 (GI3) Valine lead to Phenylalanine, its interaction with normal haemoglobin and with haemoglobin Lepore., British journal of haematology, 22(2), 125-34, 1972 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 14:07:43 (Show full history)

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