IthaID: 904

Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 29 GGC>AGC [Gly>Ser] HGVS Name: HBB:c.88G>A
Hb Name: Hb Tizi-Ouzou Protein Info: β 29(B11) Gly>Ser

Context nucleotide sequence:

Protein sequence:

Also known as:


Chromosome: 11
Locus: NG_000007.3
Locus Location: 70682
Size: 1 bp
Located at: β
Specific Location: Exon 1


Hemoglobinopathy Group: Structural Haemoglobinopathy
Hemoglobinopathy Subgroup: β-chain variant
Allele Phenotype:N/A
Stability: Unstable
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: Algerian
Inheritance: Recessive
DNA Sequence Determined: Yes

Publications / Origin

  1. Lacan P, Becchi M, Zanella-Cleon I, Aubry M, Ffrench M, Couprie N, Francina A, Two new beta-chain variants: Hb Tripoli [beta26(B8)Glu-->Ala] and Hb Tizi-Ouzou [beta29(B11)Gly-->Ser]., Hemoglobin, 28(3), 205-12, 2004
Created on 2010-06-16 16:13:16, Last reviewed on 2014-07-28 16:29:58 (Show full history)

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