IthaID: 237



Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Pathogenic / Likely Pathogenic
Common Name: CD 114 CTG>CCG [Leu>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

Comments: The rare Hb Durham-N.C. variant was presented in compound heterozygosity with the common IVS-I-110 (HBB: c.93-21G>A) variant, causing an early-onset severe β-Thalassaemia phenotype [PMID: 31456457]. Found in a heterozygous state in a Kurdish/Jew patient presenting with thalassaemia intermedia [PMID: 8980256]. Also reported in an Italian patient as a de novo mutation [PMID: 1301199].

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, Sicilian, Kurdish Jew
Molecular mechanism: Altered secondary structure
Inheritance: Dominant
DNA Sequence Determined: Yes

Sequence Viewer

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Frequencies

Publications / Origin

  1. Murru S, Poddie D, Sciarratta GV, Agosti S, Baffico M, Melevendi C, Pirastu M, Cao A, A novel beta-globin structural mutant, Hb Brescia (beta 114 Leu-Pro), causing a severe beta-thalassemia intermedia phenotype., Hum. Mutat., 1(2), 124-8, 1992 PubMed
  2. 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
  3. 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
  4. Rund D, Oron-Karni V, Filon D, Goldfarb A, Rachmilewitz E, Oppenheim A, Genetic analysis of beta-thalassemia intermedia in Israel: diversity of mechanisms and unpredictability of phenotype., Am. J. Hematol., 54(1), 16-22, 1997 PubMed
  5. Cannata M, Cassarà F, Vinciguerra M, Licari P, Passarello C, Leto F, Lo Pinto C, Pitrolo L, Ganci R, Maggio A, Giambona A, Double Heterozygosity for Hb Durham-N.C. (: c.344T>C) [β114(G16)Leu→Pro] and the IVS-I-110 (: c.93-21G>A) Causing a Severe β-Thalassemia Phenotype., Hemoglobin, 43(3), 210-213, 2019 PubMed
Created on 2010-06-16 16:13:15, Last reviewed on 2020-06-26 15:08:09 (Show full history)

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