IthaID: 555
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | CD 51 GGC>GAC [Gly>Asp] | HGVS Name: | HBA1:c.155G>A | HBA2:c.155G>A |
| Hb Name: | Hb J-Abidjan | Protein Info: | α2 or α1 51(CE9) Gly>Asp |
Context nucleotide sequence:
TTCCCGCACTTCGACCTGAGCCACG [A/G] CTCTGCCCAGGTTAAGGGCCACGGC (Strand: +)
Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHDSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR
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: | N/A |
| Associated Phenotypes: | N/A |
Location
| Chromosome: | 16 |
|---|---|
| Locus: | NG_000006.1 |
| Locus Location: | 34047 or 37851 |
| Size: | 1 bp or 1 bp |
| Located at: | α1 or α2 |
| Specific Location: | Exon 2 |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | Missense codons (Protein Structure) |
| Ethnic Origin: | Japanese, Yacouba |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | No |
In silico pathogenicity prediction
Publications / Origin
- Cabannes R, Renaud R, Mauran A, Pennors H, Charlesworth D, Price BG, Lehmann H, [Two fast hemoglobins in Ivory-Coast: Hb K Woolwich and a new hemoglobin Hb J Abidjan (alpha-51 Gly-Asp)]., Nouv Rev Fr Hematol , 12(3), 289-300, 1972
Created on 2010-06-16 16:13:15,
Last reviewed on 2014-03-27 13:49:51 (Show full history)
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