IthaID: 4081

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: CD 79 GCG>GTG [Ala>Val] HGVS Name: HBA1:c.239C>T
Hb Name: Hb Tangshan Protein Info: N/A

Protein sequence:

Also known as:

Comments: Found during an HbA1c evaluation using matrix-assisted laser desorption ionization-time of flight (MALDI-TOF) mass spectrometry (MS). The abnormal Hb was not detectable with high performance liquid chromatography or capillary electrophoresis (CS) methods.

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: 37935
Size: 1 bp
Located at: α1
Specific Location: Exon 2

Other details

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

In silico pathogenicity prediction

Sequence Viewer

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Publications / Origin

  1. Anping Xu, Song Ge, Yueying Huang, Weijie Xie, Yinghui Ye, Cheng Lin, Ling Ji, A New Hemoglobin Variant: Hb Tangshan [ HBA1: c.239C > T, CD79(GCG > GTG)(Ala > Val)] Detected by MALDI-TOF MS, Hemoglobin, 1(0), 1-3, 2023 PubMed
Created on 2023-11-21 09:55:09, Last reviewed on (Show full history)

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