IthaID: 230

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Pathogenic / Likely Pathogenic
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:

Protein sequence:

Also known as:

Comments: Leu>Arg substitution at position β106 (G8) associated with disruption of the heme pocket and heme loss. Presented with a severe Heinz body haemolytic anaemia and globin chain imbalance. Reported in a heterozygous state in a family with a severe, dominantly inherited β-thalassemia phenotype. Extremely unstable variant; its identity could only be studied by biosynthetic analysis in which a radio-active abnormal peak was observed. Isopropanol and heat stability tests were inconclusive [PMID: 429365, 447835].

External Links


Hemoglobinopathy Group: Thalassaemia and Structural Haemoglobinopathy
Hemoglobinopathy Subgroup: β-thalassaemia, β-chain variant
Allele Phenotype:Thalassaemia dominant
Stability: Hyperunstable
Oxygen Affinity: N/A
Associated Phenotypes: Haemolytic anaemia [HP:0001878]
Ineffective erythropoiesis [HP:0010972]


Chromosome: 11
Locus: NG_000007.3
Locus Location: 71894
Size: 1 bp
Located at: β
Specific Location: Exon 3

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: Missense codons (Protein Structure)
Ethnic Origin: North European, French
Molecular mechanism: Altered heme pocket
Inheritance: Dominant
DNA Sequence Determined: Yes

Sequence Viewer

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Publications / Origin

  1. Adams JG, Steinberg MH, Boxer LA, Baehner RL, Forget BG, Tsistrakis GA, The structure of hemoglobin Indianapolis [beta112(G14) arginine]. An unstable variant detectable only by isotopic labeling., The Journal of biological chemistry, 254(9), 3479-82, 1979 PubMed
  2. Adams JG, Boxer LA, Baehner RL, Forget BG, Tsistrakis GA, Steinberg MH, Hemoglobin Indianapolis (beta 112[G14] arginine). An unstable beta-chain variant producing the phenotype of severe beta-thalassemia., J. Clin. Invest., 63(5), 931-8, 1979 PubMed
  3. 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
  4. 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
  5. Thom CS, Dickson CF, Gell DA, Weiss MJ, Hemoglobin variants: biochemical properties and clinical correlates., Cold Spring Harb Perspect Med, 3(3), a011858, 2013 PubMed
Created on 2010-06-16 16:13:15, Last reviewed on 2019-06-24 15:02:21 (Show full history)

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