IthaID: 441
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Variant of Uncertain Significance |
|---|---|---|---|
| Common Name: | CD 5 GCC>GAC [Ala>Asp] | HGVS Name: | HBA1:c.17C>A |
| Hb Name: | Hb J-Toronto | Protein Info: | α1 5(A3) Ala>Asp |
Context nucleotide sequence:
GAACCCACCATGGTGCTGTCTCCTG [C/A] CGACAAGACCAACGTCAAGGCCGCC (Strand: +)
Protein sequence:
MVLSPDDKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR
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: | N/A |
| Associated Phenotypes: | N/A |
Location
| Chromosome: | 16 |
|---|---|
| Locus: | NG_000006.1 |
| Locus Location: | 37596 |
| Size: | 1 bp |
| Located at: | α1 |
| Specific Location: | Exon 1 |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | Missense codons (Protein Structure) |
| Ethnic Origin: | British |
| 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 | ||
|---|---|---|---|---|---|---|---|---|---|
| 186 | Hb J-Toronto | α1 | D-10 | Dual Kit Program | 17.9 | 1.58 | Heterozygote. Clinically normal. | [PDF] | |
| 188 | Hb J-Toronto | α1 | VARIANT II | β-thal Short Program | 22.4 | 1.88 | Heterozygote. Clinically normal. | [PDF] | |
| 189 | Hb J-Toronto | α1 | VARIANT II | Dual Kit Program | 20 | 1.693 | Heterozygote. Clinically normal. | [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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In such a case, please Refresh the page or retry at a later stage.
Otherwise, use this external link.
Publications / Origin
- Crookston JH, Irvine D, Beale D, Lehmann H, A new haemoglobin, J Toronto (alpha-5 alanine to aspartic acid)., Nature , 208(5015), 1059-61, 1965 PubMed
- Vella F, Hill JR, Wiltshire B, Lehmann H, Hemoglobin J Toronto: alpha 2-5 Ala-Asp-beta 2., Clin. Biochem. , 4(3), 137-40, 1971 PubMed
- Khorshidi M, Roshan P, Bayat N, Mahdavi MR, Najmabadi H, Hemoglobin Q-Iran detected in family members from Northern Iran: a case report., J Med Case Rep, 6(0), 47, 2012 PubMed
- Henderson SJ, Timbs AT, McCarthy J, Gallienne AE, Proven M, Rugless MJ, Lopez H, Eglinton J, Dziedzic D, Beardsall M, Khalil MS, Old JM, Ten Years of Routine α- and β-Globin Gene Sequencing in UK Hemoglobinopathy Referrals Reveals 60 Novel Mutations., Hemoglobin , 40(2), 75-84, 2016 PubMed
Created on 2010-06-16 16:13:15,
Last reviewed on 2021-04-07 09:21:35 (Show full history)
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2010-06-16 16:13:15 | The IthaGenes Curation Team | Created |
| 2 | 2014-03-12 15:02:44 | The IthaGenes Curation Team | Reviewed. |
| 3 | 2014-04-24 11:51:36 | The IthaGenes Curation Team | Reviewed. Added ClinVar link. |
| 4 | 2021-04-07 09:19:16 | The IthaGenes Curation Team | Reviewed. HGVS, protein name and locus location corrected. References added. |
| 5 | 2021-04-07 09:21:35 | The IthaGenes Curation Team | Reviewed. HGVS, protein name and locus location corrected. References added. |
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IthaGenes was last updated on 2024-11-20 13:24:07