IthaID: 237



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 114 (CTG>CCG) Leu to Pro HGVS Name: HBB:c.344T>C
Hb Name: Hb Durham-N.C. Protein Info: β 114(G16) Leu>Pro

Context nucleotide sequence:
CTGGGCAACGTGCTGGTCTGTGTGC [C/T] GGCCCATCACTTTGGCAAAGAATTC (Strand: -)

Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFATLSELHCDKLHVDPENFRLLGNVLVCVPAHHFGKEFTPPVQAAYQKVVAGVANALAHKYH

Also known as: Hb Brescia

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 71918
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:Thalassaemia dominant
Dominant
Stability: Unstable
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: US Irish, Italian, Irish, Russian
Inheritance: Dominant
DNA Sequence Determined: Yes
Detection Methods: Direct DNA sequencing

Sequence Viewer

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Frequencies

Publications / Origin

  1. Cürük MA, Molchanova TP, Postnikov YuV , Pobedimskaya DD, Liang R, Baysal E, Kolodey S, Smetanina NS, Tokarev YuN , Rumyantsev AG, Beta-thalassemia alleles and unstable hemoglobin types among Russian pediatric patients., American journal of hematology, 46(4), 329-32, 1994 PubMed
  2. de Castro CM, Devlin B, Fleenor DE, Lee ME, Kaufman RE, A novel beta-globin mutation, beta Durham-NC [beta 114 Leu-->Pro], produces a dominant thalassemia-like phenotype., Blood, 83(4), 1109-16, 1994 PubMed
Created on 2010-06-16 16:13:15, Last reviewed on 2013-10-15 17:00:14 (Show full history)

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