IthaID: 433
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | CD 1 GTG>GAG [Val>Glu] | HGVS Name: | HBA1:c.5T>A | HBA2:c.5T>A |
| Hb Name: | Hb Thionville | Protein Info: | α2 or α1 1(NA1) Val>Glu |
Context nucleotide sequence:
CAGACTCAGAGAGAACCCACCATGG [A/G/T] GCTGTCTCCTGCCGACAAGACCAAC (Strand: +)
Protein sequence:
MELSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR
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: | Decreased Oxygen Affinity |
| Associated Phenotypes: | N/A |
Location
| Chromosome: | 16 |
|---|---|
| Locus: | NG_000006.1 |
| Locus Location: | 33780 or 37584 |
| Size: | 1 bp or 1 bp |
| Located at: | α1 or α2 |
| Specific Location: | Exon 1 |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | Missense codons (Protein Structure) |
| Ethnic Origin: | French |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | No |
In silico pathogenicity prediction
Publications / Origin
- Vasseur C, Blouquit Y, Kister J, Promé D, Kavanaugh JS, Rogers PH, Guillemin C, Arnone A, Galacteros F, Poyart C, Hemoglobin Thionville. An alpha-chain variant with a substitution of a glutamate for valine at NA-1 and having an acetylated methionine NH2 terminus., J. Biol. Chem. , 267(18), 12682-91, 1992
Created on 2010-06-16 16:13:15,
Last reviewed on 2014-03-18 13:27:03 (Show full history)
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