IthaID: 621


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
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:
GCCGTGGCGCACGTGGACGACATGC [A/C/G/T] CAACGCGCTGTCCGCCCTGAGCGAC (Strand: +)

Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMHNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR

Also known as:

External Links

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

Location

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

HPLC

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]

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)

Disclaimer: The information on this website is provided as an information resource only and must not to be used as a substitute for professional diagnosis and treatment. The ITHANET Portal and IthaGenes are not responsible or liable for any advice, course of treatment, diagnosis or any other information, services or products that an individual obtains through this website.