IthaID: 3359

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Variant of Uncertain Significance
Common Name: CD 13 GCC>ACC [Ala>Thr] HGVS Name: HBB:c.40G>A
Hb Name: Hb Tower Hamlets Protein Info: β 13(A10) Ala>Thr

Context nucleotide sequence:

Protein sequence:

Also known as: Hb Chuxiong

Comments: Co-inherited with beta plus thalassaemia mutation. Runs with Hb A on HPLC (Biorad VNBS) and IEF. Detected via newborn screening with MSMS. In a recent publication [PMID:34708592], the 40G>A found in a 27-year-old female presented with normal CE patterns and normal blood parameters.

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links


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


Chromosome: 11
Locus: NG_000007.3
Locus Location: 70634
Size: 1 bp
Located at: β
Specific Location: Exon 1

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: Missense codons (Protein Structure)
Ethnic Origin: Bangladeshi/Pakistani, Chinese
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: Yes

In silico pathogenicity prediction

Sequence Viewer

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Publications / Origin

  1. Zhang J, Xie M, Peng Z, Zhou X, Zhao T, Jin C, Yan Y, Zeng X, Li D, Zhang Y, Su J, Feng N, He J, Yao X, Lv T, Zhu B, Five novel globin gene mutations identified in five Chinese families by next-generation sequencing., Mol Genet Genomic Med, 9(12), e1835, 2021 PubMed


1Daniel, Yvonne2019-01-17First report.
2Monteiro, Daniel2019-01-17First report.
Created on 2019-03-27 17:00:17, Last reviewed on 2022-01-05 11:55:34 (Show full history)

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