IthaID: 654



Names and Sequences

Functionality: Globin gene causative mutation
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:
GTCCGCCCTGAGCGACCTGCACGCG [C/T] ACAAGCTTCGGGTGGACCCGGTCAA (Strand: +)

Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAYKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR

External Links

Location

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

Phenotype

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
Inheritance: Recessive
DNA Sequence Determined: No
Detection Methods: Direct DNA sequencing

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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