IthaID: 414
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Pathogenic / Likely Pathogenic |
|---|---|---|---|
| Common Name: | CD 131 TCT>CCT [Ser>Pro] | HGVS Name: | HBA2:c.394T>C |
| Hb Name: | Hb Questembert | Protein Info: | α2 131(H14) Ser>Pro |
Context nucleotide sequence:
CGCCTCCCTGGACAAGTTCCTGGCT [T>C] CTGTGAGCACCGTGCTGACCTCCAA (Strand: +)
Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLAPVSTVLTSKYR
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: | 34428 |
| Size: | 1 bp |
| Located at: | α2 |
| Specific Location: | Exon 3 |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | Missense codons (Protein Structure) |
| Ethnic Origin: | Yugoslavian, French |
| Molecular mechanism: | Altered secondary structure |
| Inheritance: | Recessive |
| DNA Sequence Determined: | Yes |
In silico pathogenicity prediction
Publications / Origin
- Rochette J, Barnetson R, Thein SL, Varet B, Valensi F, Hb Questembert is due to a base substitution (T-->C) in codon 131 of the alpha 2-globin gene and has an alpha-thalassemia biosynthetic ratio., American journal of hematology, 48(4), 289-90, 1995
Created on 2010-06-16 16:13:15,
Last reviewed on 2021-03-23 14:41:04 (Show full history)
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