IthaID: 3384

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Pathogenic / Likely Pathogenic
Common Name: CD 110 CTG>CGG [Leu>Arg] HGVS Name: HBB:c.332T>G
Hb Name: Hb London-Ontario Protein Info: β 110(G12) Leu>Arg

Context nucleotide sequence:

Protein sequence:

Also known as:

Comments: Found in a heterozygous state in a Caucasian patient with a Hb electrophoretic pattern consistent with β-thalassaemia trait but a clinical phenotype compatible with β-thalassaemia major. Dominant form of β-thalassaemia.

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links


Hemoglobinopathy Group: Structural Haemoglobinopathy
Hemoglobinopathy Subgroup: β-chain variant
Allele Phenotype:Dominant
Stability: Hyperunstable
Oxygen Affinity: N/A
Associated Phenotypes: N/A


Chromosome: 11
Locus: NG_000007.3
Locus Location: 71906
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: Canadian of British descent
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: Yes

In silico pathogenicity prediction

Sequence Viewer

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Publications / Origin

  1. Bienz MN, Hsia C, Waye JS, Bode M, Solh Z, A Novel Human β-Globin Gene Variant [Hb London-Ontario, : c.332T>G] is Associated with Transfusion-Dependent Anemia in a Patient with a Hemoglobin Electrophoresis Pattern Consistent with β-Thalassemia Trait., Hemoglobin, 43(2), 129-131, 2019 PubMed
Created on 2019-04-08 11:08:18, Last reviewed on 2019-11-05 16:03:07 (Show full history)

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