IthaID: 654

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Variant of Uncertain Significance
Common Name: CD 89 CAC>TAC [His>Tyr] HGVS Name: HBA1:c.268C>T | HBA2:c.268C>T
Hb Name: Hb Villeurbanne Protein Info: α2 or α1 89(FG1) His>Tyr

Context nucleotide sequence:

Protein sequence:

Also known as:

External Links


Chromosome: 16
Locus: NG_000006.1
Locus Location: 34160 or 37964
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: N/A
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: No

Sequence Viewer

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Publications / Origin

  1. Déon C, Promé JC, Promé D, Francina A, Groff P, Kalmes G, Galactéros F, Wajcman H, Combined mass spectrometric methods for the characterization of human hemoglobin variants localized within alpha T9 peptide: identification of Hb Villeurbanne alpha 89 (FG1) His-->Tyr., J Mass Spectrom , 32(8), 880-7, 1997 PubMed
Created on 2010-06-16 16:13:16, Last reviewed on 2014-04-14 09:52:40 (Show full history)

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