IthaID: 3175



Names and Sequences

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

Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGLGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR

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.

External Links

No available links

Location

Chromosome: 16
Locus: NG_000006.1
Locus Location: 37872
Size: 1 bp
Located at: α1
Specific Location: Exon 2

Phenotype

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]

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: Missense codons (Protein Structure)
Ethnic Origin: Turkish
Inheritance: Recessive
DNA Sequence Determined: Yes
Detection Methods: Direct DNA sequencing

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 2017-02-13 15:09:18 (Show full history)

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