IthaID: 3065

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Variant of Uncertain Significance
Common Name: CD 86 GCC>ACC [Ala>Thr] HGVS Name: HBB:c.259G>A
Hb Name: Hb Seoul Protein Info: N/A

Context nucleotide sequence:

Protein sequence:

Also known as:

Comments: Found in a heterozygous state in a Korean male presenting with erythrocytosis. No mutations found in JAK2, BPGM, EGLN1, EPAS, EPOR and VHL genes. β86(F2) is a critical haemoglobin residue that affects the oxygen affinity

External Links


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


Chromosome: 11
Locus: NG_000007.3
Locus Location: 70983
Size: 1 bp
Located at: β
Specific Location: Exon 2

Other details

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

In silico pathogenicity prediction

Sequence Viewer

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Publications / Origin

  1. Shin SY, Bang SM, Kim HJ, A Novel Hemoglobin Variant Associated with Congenital Erythrocytosis: Hb Seoul [β86(F2)Ala→Thr] (HBB:c.259G>A)., Ann. Clin. Lab. Sci. , 46(3), 312-4, 2016 PubMed
Created on 2016-09-06 12:10:10, Last reviewed on 2019-11-15 12:54:44 (Show full history)

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