IthaID: 991

Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 57 AAC>GAC HGVS Name: HBB:c.172A>G
Hb Name: Hb J-Daloa Protein Info: β 57(E1) Asn>Asp

Context nucleotide sequence:

Protein sequence:

Also known as:

External Links


Chromosome: 11
Locus: NG_000007.3
Locus Location: 70896
Size: 1 bp
Located at: β
Specific Location: Exon 2


Hemoglobinopathy Group: Structural Haemoglobinopathy
Hemoglobinopathy Subgroup: β-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: N/A
Ethnic Origin: Bete tribe in Ivory Coast
Inheritance: Recessive
DNA Sequence Determined: No

Publications / Origin

  1. Boissel JP, Wajcman H, Labie D, Fabritius H, Cabannes R, Hb J Daloa (beta 57 (E1) Asn replaced by Asp): a new variant found in Ivory Coast., Hemoglobin, 6(4), 433-7, 1982
Created on 2010-06-16 16:13:16, Last reviewed on 2013-10-15 17:00:14 (Show full history)

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