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
Disclaimer: The HPLC images are provided as an information resource only.
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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 | ||
|---|---|---|---|---|---|---|---|---|---|
| 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
Note:
The impact thresholds provided in this section are based on the analyses performed in Tamana et.al. For any given tool, the impact thresholds defined for the set of variants with the same effect on function as the variant examined, are preferred over those defined for the full dataset.
Sequence Viewer
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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 PubMed
- 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
- 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
- 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 2010-06-16 16:13:16,
Last reviewed on 2020-02-03 12:32:57 (Show full history)
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2010-06-16 16:13:16 | The IthaGenes Curation Team | Created |
| 2 | 2013-10-15 17:00:14 | The IthaGenes Curation Team | Reviewed. |
| 3 | 2014-04-10 10:24:12 | The IthaGenes Curation Team | Reviewed. |
| 4 | 2014-06-05 11:24:58 | The IthaGenes Curation Team | Reviewed. References added. |
| 5 | 2020-01-31 11:03:44 | The IthaGenes Curation Team | Reviewed. Origin added |
| 6 | 2020-02-03 12:32:57 | The IthaGenes Curation Team | Reviewed. Origin added |
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IthaGenes was last updated on 2024-11-20 13:24:07