IthaID: 415
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | CD 132 GTG>GGG [Val>Gly] | HGVS Name: | HBA1:c.398T>G | HBA2:c.398T>G |
| Hb Name: | Hb Caen | Protein Info: | α1 or α2 132(H15) Val>Gly |
Context nucleotide sequence:
TCCCTGGACAAGTTCCTGGCTTCTG [T/G] GAGCACCGTGCTGACCTCCAAATAC (Strand: +)
Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASGSTVLTSKYR
Also known as:
We follow the HGVS sequence variant nomenclature and IUPAC standards.
Phenotype
| Hemoglobinopathy Group: | Thalassaemia and Structural Haemoglobinopathy |
|---|---|
| Hemoglobinopathy Subgroup: | α-thalassaemia, α-chain variant |
| Allele Phenotype: | α⁺ |
| Stability: | N/A |
| Oxygen Affinity: | N/A |
| Associated Phenotypes: | Haemolytic anaemia [HP:0001878] |
Location
| Chromosome: | 16 |
|---|---|
| Locus: | NG_000006.1 |
| Locus Location: | 34432 |
| Size: | 1 bp |
| Located at: | α1 or α2 |
| Specific Location: | Exon 3 |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | Missense codons (Protein Structure) |
| Ethnic Origin: | French, Caucasian |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | No |
In silico pathogenicity prediction
Publications / Origin
- Wajcman H, Vasseur C, Blouquit Y, Rosa J, Labie D, Najman A, Reman O, Leporrier M, Galacteros F, Unstable alpha-chain hemoglobin variants with factitious beta-thalassemia biosynthetic ratio: Hb Questembert (alpha 131[H14]Ser-->Pro) and Hb Caen (alpha 132[H15]Val-->Gly)., American journal of hematology, 42(4), 367-74, 1993
Created on 2010-06-16 16:13:15,
Last reviewed on 2021-04-07 08:47:32 (Show full history)
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