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
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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 | ||
|---|---|---|---|---|---|---|---|---|---|
| 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
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
- 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
- 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
- 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
Created on 2010-06-16 16:13:15,
Last reviewed on 2021-04-07 09:21:35 (Show full history)
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