IthaID: 2504



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 77 CCC>CAC [Pro>His] HGVS Name: HBA2:c.233C>A
Hb Name: Hb Toulon Protein Info: α1 77(EF6) Pro>His

Context nucleotide sequence:
GCCGTGGCGCACGTGGACGACATGC [A/C/G] CAACGCGCTGTCCGCCCTGAGCGAC (Strand: +)

External Links

Location

Chromosome: 16
Locus: NG_000006.1
Locus Location: 37929
Size: 1 bp
Located at: α1
Specific Location: Exon 2

Phenotype

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

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: Missense codons (Protein Structure)
Ethnic Origin: French, African
Inheritance: Recessive
DNA Sequence Determined: Yes
Detection Methods: Direct DNA sequencing

Sequence Viewer

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Publications / Origin

  1. Badens C, Léna-Russo D, Lacan P, Francina A, Promé D, Riou J, Geoffroy M, Ayavou T, Kister J, Galactéros F, Wajcman H, Hb Toulon [alpha77(EF6)Pro-->His]: a new variant due to a mutation in the alpha2 gene found during measurement of glycated hemoglobin., Hemoglobin , 23(4), 367-71, 1999 PubMed
  2. Waye JS, Eng B, Chui DH, Powers PJ, Lafferty JD, Second report of Hb Toulon [alpha77(EF6)Pro-->His] in a Canadian family of Italian descent., Hemoglobin , 24(4), 359-60, 2000 PubMed
  3. Caruso D, Da Riva L, Giavarini F, Galli G, Brambilla S, Luraschi P, Franzini C, A hemoglobin variant found during glycohemoglobin measurement, identified as Hb Toulon [alpha77(EF6)Pro-->His] by tandem mass spectrometry., Hemoglobin , 26(2), 197-9, 2002 PubMed
  4. Moradkhani K, Préhu C, Old J, Henderson S, Balamitsa V, Luo HY, Poon MC, Chui DH, Wajcman H, Patrinos GP, Mutations in the paralogous human alpha-globin genes yielding identical hemoglobin variants., Ann. Hematol. , 88(6), 535-43, 2009 PubMed
Created on 2014-06-05 11:23:50, Last reviewed on (Show full history)

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