IthaID: 3913

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: CD 107 GTG>CTG [Val>Leu] HGVS Name: HBA2:c.322G>C
Hb Name: Hb Liaobu Protein Info: α2 107(G14) Val>Leu

Context nucleotide sequence:

Protein sequence:

Also known as:

Comments: The structurally abnormal α chain variant was characterized by matrix-assisted laser desorption ionization-time of flight (MALDI-TOF) mass spectrometry (MS). The isopropanol stability test indicated the stable state of this structural Hb variant.

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

No available links


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


Chromosome: 16
Locus: NG_000006.1
Locus Location: 34356
Size: 1 bp
Located at: α2
Specific Location: Exon 3

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. Tan XM, Liu YH, Shang X, Ye YH, Xu XM, A Novel Hemoglobin Variant Hb Liaobu [α107(G14)Val→Leu, : c.322G>C] Detected by Matrix-Assisted Laser Desorption Ionization-Time-of-Flight Mass Spectrometry., Hemoglobin, 2022 PubMed
Created on 2022-03-31 10:31:40, Last reviewed on 2022-03-31 10:32:49 (Show full history)

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