IthaID: 3175

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Pathogenic / Likely Pathogenic
Common Name: CD 58 CAC>CTC [His>Leu] HGVS Name: HBA1:c.176A>T
Hb Name: Hb Kirklareli Protein Info: N/A

Protein sequence:

Also known as:

Comments: The crystal structure of Hb Kirklareli shows that the mutation creates a completely apolar active site, which prevents electrostatic stabilization of bound O2, promotes autoxidation, and enhances hemin dissociation by inhibiting water coordination to the Fe(III) atom.

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links


Hemoglobinopathy Group: Structural Haemoglobinopathy
Hemoglobinopathy Subgroup: α-chain variant
Allele Phenotype:N/A
Stability: Unstable
Oxygen Affinity: Decreased Oxygen Affinity
Associated Phenotypes: Haemolytic anaemia [HP:0001878]


Chromosome: 16
Locus: NG_000006.1
Locus Location: 37872
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: Turkish
Molecular mechanism: Altered heme pocket
Inheritance: Recessive
DNA Sequence Determined: Yes

In silico pathogenicity prediction

Sequence Viewer

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Publications / Origin

  1. Bissé E, Schaeffer-Reiss C, Van Dorsselaer A, Alayi TD, Epting T, Winkler K, Benitez Cardenas AS, Soman J, Birukou I, Samuel PP, Olson JS, Hemoglobin Kirklareli (α H58L), a New Variant Associated with Iron Deficiency and Increased CO Binding., J. Biol. Chem. , 292(6), 2542-2555, 2017 PubMed
Created on 2017-02-13 15:01:38, Last reviewed on 2019-04-04 15:57:25 (Show full history)

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