IthaID: 234



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 110 CTG>CCG [Leu>Pro] HGVS Name: HBB:c.332T>C
Hb Name: Hb Showa-Yakushiji Protein Info: β 110(G12) Leu>Pro

Context nucleotide sequence:
CTCCCACAGCTCCTGGGCAACGTGC [C/T] GGTCTGTGTGCTGGCCCATCACTTT (Strand: -)

Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFATLSELHCDKLHVDPENFRLLGNVPVCVLAHHFGKEFTPPVQAAYQKVVAGVANALAHKYH

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 71906
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: Japanese, UAE, Pakistani
Inheritance: Dominant
DNA Sequence Determined: Yes
Detection Methods: Direct DNA sequencing

Sequence Viewer

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Frequencies

Publications / Origin

  1. Kobayashi Y, Fukumaki Y, Komatsu N, Ohba Y, Miyaji T, Miura Y, A novel globin structural mutant, Showa-Yakushiji (beta 110 Leu-Pro) causing a beta-thalassemia phenotype., Blood, 70(5), 1688-91, 1987 PubMed
  2. Giordano PC, Addo-Daaku A, Sander MJ, van Rooijen-Nijdam I, van Delft P, Harteveld CL, Kok PJ, The rare Hb Showa-Yakushiji [beta110(G12)Leu-->Pro, CTG-->CCG] in combination with an alpha gene triplication found in a Dutch patient during her first pregnancy examination., Hemoglobin , 31(2), 167-71, 2007 PubMed
  3. Yasmeen H, Toma S, Killeen N, Hasnain S, Foroni L, The molecular characterization of Beta globin gene in thalassemia patients reveals rare and a novel mutations in Pakistani population., Eur J Med Genet , 59(8), 355-62, 2016 PubMed
Created on 2010-06-16 16:13:15, Last reviewed on 2016-09-02 14:21:39 (Show full history)

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