IthaID: 1050

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: CD 75 CTG>CCG; CD 141 (-CTG) HGVS Name: HBB:c.[227T>C;424_426delCTG]
Hb Name: Hb Atlanta-Coventry Protein Info: β 75(E19) Leu>Pro AND β 141(H19) Leu->0

Context nucleotide sequence:

Protein sequence:

Also known as:

Comments: Hb Atlanta-Coventry (βAt-Co) was initially proposed to contain two mutations, β75 Leu>Pro (Hb Atlanta) and β141 Leu deleted (Hb Coventry). It is now proposed that β141 Leu is not deleted but it is likely to be a hydroxyleucine, which results from the post-translational oxidation of β141 Leu as a consequence of perturbation of the haem environment caused by the β75 Leu>Pro mutation in the E helix (E19).

External Links


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


Chromosome: 11
Locus: NG_000007.3
Locus Location: 70951
Size: 1 bp
Located at: β
Specific Location: Exon 2

Other details

Type of Mutation: Point-Mutation(Deletion)
Effect on Gene/Protein Function: N/A
Ethnic Origin: N/A
Molecular mechanism: Altered secondary structure
Inheritance: Recessive
DNA Sequence Determined: No

In silico pathogenicity prediction

Sequence Viewer

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Publications / Origin

  1. Brennan SO, Shaw J, Allen J, George PM, Beta 141 Leu is not deleted in the unstable haemoglobin Atlanta-Coventry but is replaced by a novel amino acid of mass 129 daltons., British journal of haematology, 81(1), 99-103, 1992 PubMed
  2. Brennan SO, Shaw JG, George PM, Huisman TH, Posttranslational modification of beta 141 Leu associated with the beta 75(E19)Leu-->Pro mutation in Hb Atlanta., Hemoglobin, 17(1), 1-7, 1993 PubMed
Created on 2010-06-16 16:13:16, Last reviewed on 2021-11-29 16:48:52 (Show full history)

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