IthaID: 459
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | CD 11 AAG>CAG [Lys>Glu] | HGVS Name: | HBA2:p.Lys12Glu | HBA1:p.Lys12Glu |
| Hb Name: | Hb Anantharaj | Protein Info: | α2 or α1 11(A9) Lys>Glu |
Context nucleotide sequence:
GTCTCCTGCCGACAAGACCAACGTC [A/C/G] AGGCCGCCTGGGGTAAGGTCGGCGC (Strand: +)
Protein sequence:
MVLSPADKTNVEAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR
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: | 33809 or 37613 |
| 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: | Thai |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | No |
In silico pathogenicity prediction
Publications / Origin
- Pootrakul S, Kematorn B, Na-Nakorn S, Suanpan S, A new haemoglobin variant: haemoglobin Anantharaj alpha 11 (A9) lysine replaced by glutamic acid., Biochim. Biophys. Acta , 405(1), 161-6, 1975
- Svasti J, Surarit R, Srisomsap C, Pravatmuang P, Wasi P, Fucharoen S, Blouquit Y, Galacteros F, Rosa J, Identification of Hb Anantharaj [alpha 11(A9)Lys->Glu] as Hb J-Wenchang-Wuming [alpha 11(A9)Lys->Gln]., Hemoglobin , 17(5), 453-5, 1993
Created on 2010-06-16 16:13:15,
Last reviewed on 2014-03-12 16:29:35 (Show full history)
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