IthaID: 230



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 106 CTG>CGG [Leu>Arg] HGVS Name: HBB:c.320T>G
Hb Name: Hb Terre Haute Protein Info: β 106(G8) Leu>Arg

Context nucleotide sequence:
CCTCTTATCTTCCTCCCACAGCTCC [A/C/G/T] GGGCAACGTGCTGGTCTGTGTGCTG (Strand: -)

Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFATLSELHCDKLHVDPENFRLRGNVLVCVLAHHFGKEFTPPVQAAYQKVVAGVANALAHKYH

Comments: Altered heme pocket

External Links

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 71894
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: Hyperunstable
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: North European, French
Inheritance: Dominant
DNA Sequence Determined: Yes
Detection Methods: Direct DNA sequencing

Sequence Viewer

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Publications / Origin

  1. Coleman MB, Steinberg MH, Adams JG, Hemoglobin Terre Haute arginine beta 106. A posthumous correction to the original structure of hemoglobin Indianapolis., The Journal of biological chemistry, 266(9), 5798-800, 1991 PubMed
  2. Girodon E, Ghanem N, Vidaud M, Riou J, Martin J, Galactéros F, Goossens M, Rapid molecular characterization of mutations leading to unstable hemoglobin beta-chain variants., Annals of hematology, 65(4), 188-92, 1992 PubMed
Created on 2010-06-16 16:13:15, Last reviewed on 2015-12-03 17:02:22 (Show full history)

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