IthaID: 555

Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 51 GGC>GAC [Gly>Asp] HGVS Name: HBA1:c.155G>A | HBA2:c.155G>A
Hb Name: Hb J-Abidjan Protein Info: α2 or α1 51(CE9) Gly>Asp

Context nucleotide sequence:

Protein sequence:

Also known as:


Chromosome: 16
Locus: NG_000006.1
Locus Location: 34047 or 37851
Size: 1 bp or 1 bp
Located at: α1 or α2
Specific Location: Exon 2


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

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: Missense codons (Protein Structure)
Ethnic Origin: Japanese, Yacouba
Inheritance: Recessive
DNA Sequence Determined: No

Sequence Viewer

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Publications / Origin

  1. Cabannes R, Renaud R, Mauran A, Pennors H, Charlesworth D, Price BG, Lehmann H, [Two fast hemoglobins in Ivory-Coast: Hb K Woolwich and a new hemoglobin Hb J Abidjan (alpha-51 Gly-Asp)]., Nouv Rev Fr Hematol , 12(3), 289-300, 1972 PubMed
Created on 2010-06-16 16:13:15, Last reviewed on 2014-03-27 13:49:51 (Show full history)

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