IthaID: 686
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Pathogenic / Likely Pathogenic |
|---|---|---|---|
| Common Name: | CD 96 GTC>GAC [Val>Asp] | HGVS Name: | HBA2:c.290T>A |
| Hb Name: | Hb El Escorial | Protein Info: | α2 96(G3) Val>Asp |
Context nucleotide sequence:
GCGCACAAGCTTCGGGTGGACCCGG [A/T] CAACTTCAAGGTGAGCGGCGGGCCG (Strand: +)
Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPDNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR
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: | Unstable |
| Oxygen Affinity: | Decreased Oxygen Affinity |
| Associated Phenotypes: | N/A |
Location
| Chromosome: | 16 |
|---|---|
| Locus: | NG_000006.1 |
| Locus Location: | 34182 |
| Size: | 1 bp |
| Located at: | α2 |
| Specific Location: | Exon 2 |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | Missense codons (Protein Structure) |
| Ethnic Origin: | Nigerian |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | Yes |
In silico pathogenicity prediction
Publications / Origin
- Villegas A, Hojas R, González FA, Ropero P, Carreño DL, Hb Clinico-Madrid II [alpha90(FG2)Lys-->Arg (alpha1)] and Hb El Escorial [alpha96(G3)Val-->Asp (alpha2)]: two new a chain variants found during a neonatal period study., Hemoglobin , 27(3), 185-90, 2003
Created on 2010-06-16 16:13:16,
Last reviewed on 2014-04-14 15:39:28 (Show full history)
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