IthaID: 3841

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: CD 15 GGT>AGT [Gly>Ser] HGVS Name: HBA2:c.46G>A
Hb Name: Hb Nanchang Protein Info: N/A

Context nucleotide sequence:

Protein sequence:

Also known as:

Comments: Found in a 7-year-old female with Hb 12.0 g/dL, RBC 4.79×10^12/L, MCV 76.4 fL, MCH 25.7 pg and MCHC 33.3 g/L. Capillary electrophoresis showed normal levels of HbA 97.3%, HbA2 2.7%. It was also detected in a 33-year-old female by MALDI-TOF MS (via the sufficient mass difference between the wild and variant globin chains) and in a girl with normal hematological parameters.

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links


Hemoglobinopathy Group: Thalassaemia and Structural Haemoglobinopathy
Hemoglobinopathy Subgroup: α-thalassaemia, α-chain variant
Allele Phenotype:α⁺
Stability: N/A
Oxygen Affinity: N/A
Associated Phenotypes: N/A


Chromosome: 16
Locus: NG_000006.1
Locus Location: 33821
Size: 1 bp
Located at: α2
Specific Location: Exon 1

Other details

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

In silico pathogenicity prediction

Sequence Viewer

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Publications / Origin

  1. Yao XY, Yu J, Chen SP, Xiao JW, Zheng QC, Liu HY, Zhang L, Xian Y, Zou L, Prevalence and genetic analysis of α-thalassemia and β-thalassemia in Chongqing area of China., Gene , 532(1), 120-4, 2013 PubMed
  2. Xu A, Chen W, Xie W, Zheng H, Zhou Y, Ji L, A Novel α-Globin Chain Variant, Hb Nanchang [HBA2: c.46G>A, Codon 15 (GGT>AGT) (Gly→Ser)], Detected by Matrix-Assisted Laser Desorption Ionization-Time of Flight Mass Spectrometry., Hemoglobin, 2021 PubMed


1Li, Youqiong2021-07-29First report.
Created on 2021-07-30 12:47:10, Last reviewed on 2023-01-26 09:45:49 (Show full history)

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