IthaID: 2503
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Benign / Likely Benign |
|---|---|---|---|
| Common Name: | CD 75 GAC>TAC [Asp>Tyr] | HGVS Name: | HBA1:c.226G>T |
| Hb Name: | Hb Winnipeg | Protein Info: | α1 75(EF4) Asp>Tyr |
| Also known as: |
We follow the
HGVS sequence variant nomenclature
and
IUPAC standards.
Context nucleotide sequence:
GACCAACGCCGTGGCGCACGTGGAC [A/C/G/T] ACATGCCCAACGCGCTGTCCGCCCT (Strand: +)
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: | 37922 |
| Size: | 1 bp |
| Located at: | α1 |
| Specific Location: | Exon 2 |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | Missense codons (Protein Structure) |
| Ethnic Origin: | Caucasian, Sardinian |
| 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 | ||
|---|---|---|---|---|---|---|---|---|---|
| 373 | Hb Winnipeg | α1 | D-10 | Dual Kit Program | 16.7 | 4.46 | Heterozygote. | [PDF] | |
| 374 | Hb Winnipeg | α1 | VARIANT | β-thal Short Program | 18 | 4.74 | Heterozygote. | [PDF] | |
| 375 | Hb Winnipeg | α1 | VARIANT II | Dual Kit Program | 16.1 | 4.084 | Heterozygote. | [PDF] |
In silico pathogenicity prediction
Publications / Origin
- Vella F, Wiltshire B, Lehmann H, Galbraith P, Hemoglobin Winnipeg: alpha2 75 Asp leads to Tyr beta2., Clin. Biochem. , 6(2), 66-70, 1973
- 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 2014-06-05 11:12:32,
Last reviewed on (Show full history)
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