IthaID: 715

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Benign / Likely Benign
Common Name: CD 114 CCC>CTC [Pro>Leu] HGVS Name: HBA1:c.344C>T
Hb Name: Hb Nouakchott Protein Info: α1 114(GH2) Pro>Leu

Context nucleotide sequence:

Protein sequence:

Also known as:

We follow the HGVS sequence variant nomenclature and IUPAC standards.


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: 38189
Size: 1 bp
Located at: α1
Specific Location: Exon 3

Other details

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

In silico pathogenicity prediction

Sequence Viewer

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Publications / Origin

  1. Wajcman H, Delaunay J, Francina A, Rosa J, Galacteros F, Hemoglobin Nouakchott [alpha 114(GH2)Pro----Leu]: a new hemoglobin variant displaying an unusual increase in hydrophobicity., Biochim. Biophys. Acta , 998(1), 25-31, 1989 PubMed
  2. Pondman KM, Brinkman JW, van der Straaten HM, Stroobants AK, Harteveld CL, Hb Nouakchott [α114(GH2)Pro→Leu; HBA1: c.344C>T], A Second and Third Case Described in Two Unrelated Dutch Families., Hemoglobin, 42(1), 51-53, 2018 PubMed
Created on 2010-06-16 16:13:16, Last reviewed on 2021-04-07 12:28:49 (Show full history)

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