IthaID: 3623

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: CD 16 AAG>CAG [Lys>Gln] HGVS Name: HBA2:c.49A>C
Hb Name: Hb Heilongjiang Protein Info: α2 16(A14) Lys>Gln

Context nucleotide sequence:

Protein sequence:

Also known as:

Comments: Found in a 46-year old Chinese woman with decreased MCV (69.9fL) and MCH (20.6pg). The α-chain Hb variant accounting 28.5%, interfered with HbA1c measurement

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: 33824
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

Publications / Origin

  1. Xu A, Chen W, Xie W, Ji L, Wang Y, Xu M, A New α Chain Variant, Hb Heilongjiang (: c.49A>C), Found During Hb A Measurement., Hemoglobin, 44(2), 143-145, 2020
Created on 2020-09-08 11:12:26, Last reviewed on 2020-09-09 15:21:48 (Show full history)

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