IthaID: 536
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Pathogenic / Likely Pathogenic |
|---|---|---|---|
| Common Name: | CD 45 CAC>CGC [His>Arg] | HGVS Name: | HBA1:c.137A>G |
| Hb Name: | Hb Fort de France | Protein Info: | α1 45(CE3) His>Arg |
| Also known as: |
We follow the
HGVS sequence variant nomenclature
and
IUPAC standards.
Context nucleotide sequence:
CCCACCACCAAGACCTACTTCCCGC [A/G] CTTCGACCTGAGCCACGGCTCTGCC (Strand: +)
Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPRFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR
Phenotype
| Hemoglobinopathy Group: | Structural Haemoglobinopathy |
|---|---|
| Hemoglobinopathy Subgroup: | α-chain variant |
| Allele Phenotype: | N/A |
| Stability: | Unstable |
| Oxygen Affinity: | Increased Oxygen Affinity |
| Associated Phenotypes: | N/A |
Location
| Chromosome: | 16 |
|---|---|
| Locus: | NG_000006.1 |
| Locus Location: | 37833 |
| 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: | French West Indies |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | No |
HPLC
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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 | ||
|---|---|---|---|---|---|---|---|---|---|
| 226 | Hb Fort de France | α1 | D-10 | Dual Kit Program | 64.1 | 1.66 | Heterozygote. Elutes in the window of HbA2. | [PDF] | |
| 227 | Hb Fort de France | α1 | VARIANT | β-thal Short Program | 16.3 | 3.52 | Heterozygote. Elutes in the window of HbA2. | [PDF] | |
| 232 | Hb Fort de France | α1 | D-10 | Dual Kit Program | 16.1 | 3.06 | Compound heterozygote. In this case HbA0 is a result of transfusion. | [PDF] |
In silico pathogenicity prediction
Publications / Origin
- Braconnier F, Gacon G, Thillet J, Wajcman H, Soria J, Maigret P, Labie D, Rosa J, Hemoglobin Fort de France (alpha2(45)(CD3) His replaced by Arg beta2). A new variant with increased oxygen affinity., Biochim. Biophys. Acta , 493(1), 228-33, 1977
- Cash FE, Monplaisir N, Goossens M, Liebhaber SA, Locus assignment of two alpha-globin structural mutants from the Caribbean basin: alpha Fort de France (alpha 45 Arg) and alpha Spanish Town (alpha 27 Val)., Blood , 74(2), 833-5, 1989
Created on 2010-06-16 16:13:15,
Last reviewed on 2021-03-04 12:50:26 (Show full history)
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