IthaID: 621

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Benign / Likely Benign
Common Name: CD 77 CCC>CAC [Pro>His] HGVS Name: HBA2:c.233C>A
Hb Name: Hb Toulon Protein Info: α2 77(EF6) Pro>His

Context nucleotide sequence:

Protein sequence:

Also known as:

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links


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


Chromosome: 16
Locus: NG_000006.1
Locus Location: 34125
Size: 1 bp
Located at: α2
Specific Location: Exon 2

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: Missense codons (Protein Structure)
Ethnic Origin: French, British, Italian
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: Yes


Disclaimer: The HPLC images are provided as an information resource only. Bio-Rad Laboratories, Inc and the ITHANET Portal disclaim responsibility and have no liability if this information is used for diagnostic or treatment purposes. D-10™ and VARIANT™ are registered trademarks of Bio-Rad Laboratories, Inc. and used with permission. Redistribution and use of the above material is allowed only with permission by Bio-Rad Laboratories, Inc. To access HPLC images and reports for different variants, use the IthaChrom tool.
ID Hb Variant Gene Instrument Method Area (%) Ret Time (min) Comments
102Hb Toulonα2D-10Dual Kit Program33.52.96Heterozygote clinically normal. Elutes in the HbA2 window.[PDF]
103Hb Toulonα2VARIANTβ-thal Short Program23.93.52Heterozygote clinically normal. Elutes in the HbA2 window.[PDF]
104Hb Toulonα2VARIANT IIβ-thal Short Program253.57Heterozygote clinically normal. Elutes in the HbA2 window.[PDF]

In silico pathogenicity prediction

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
  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
  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
  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
Created on 2010-06-16 16:13:16, Last reviewed on 2020-02-03 12:32:57 (Show full history)

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