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:
GCCGTGGCGCACGTGGACGACATGC [A/C/G/T] CAACGCGCTGTCCGCCCTGAGCGAC (Strand: +)
Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMHNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR
Also known as:
We follow the HGVS sequence variant nomenclature and IUPAC standards.
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
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D-10™ and VARIANT™ are registered trademarks of Bio-Rad Laboratories, Inc. and used with permission.
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To access HPLC images and reports for different variants, use the IthaChrom tool.
| ID | Hb Variant | Gene | Instrument | Method | Area (%) | Ret Time (min) | Comments | ||
|---|---|---|---|---|---|---|---|---|---|
| 102 | Hb Toulon | α2 | D-10 | Dual Kit Program | 33.5 | 2.96 | Heterozygote clinically normal. Elutes in the HbA2 window. | [PDF] | |
| 103 | Hb Toulon | α2 | VARIANT | β-thal Short Program | 23.9 | 3.52 | Heterozygote clinically normal. Elutes in the HbA2 window. | [PDF] | |
| 104 | Hb Toulon | α2 | VARIANT II | β-thal Short Program | 25 | 3.57 | Heterozygote clinically normal. Elutes in the HbA2 window. | [PDF] |
In silico pathogenicity prediction
Publications / Origin
- 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
- 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
- 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
- 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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