IthaID: 3379

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Variant of Uncertain Significance
Common Name: CD 139 AAA>CAA [Lys>Gln] HGVS Name: HBA2:c.418A>C
Hb Name: Hb Jilin Protein Info: α2 139(HC1) Lys>Gln

Context nucleotide sequence:

Protein sequence:

Also known as:

Comments: Found in a heterozygous state. Perceived to be haematologically silent. Its chromatographic profile suggests a probable interference during the monitoring of glycated haemoglobin (HbA1c).

External Links


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


Chromosome: 16
Locus: NG_000006.1
Locus Location: 34452
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. Xu A, Li J, Chen W, Ji L, Identification of a novel hemoglobin variant Hb Jilin [α139(HC1)Lys>Gln; HBA2:C.418 A>C] in a Chinese family., Int J Lab Hematol, 2018 PubMed
Created on 2019-04-08 10:48:28, Last reviewed on 2019-04-09 11:26:53 (Show full history)

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