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

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
Created on 2010-06-16 16:13:17, Last reviewed on 2015-12-03 16:37:43 (Show full history)

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