IthaID: 575
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | CD 59 GGC>GTC [Gly>Val] | HGVS Name: | HBA1:c.179G>T | HBA2:c.179G>T |
| Hb Name: | Hb Tottori | Protein Info: | α2 or α1 59(E8) Gly>Val |
Context nucleotide sequence:
GGCTCTGCCCAGGTTAAGGGCCACG [A/C/G/T] CAAGAAGGTGGCCGACGCGCTGACC (Strand: +)
Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHVKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR
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: | N/A |
| Associated Phenotypes: | Haemolytic anaemia [HP:0001878] |
Location
| Chromosome: | 16 |
|---|---|
| Locus: | NG_000006.1 |
| Locus Location: | 34071 or 37875 |
| 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: | N/A |
| Ethnic Origin: | Japanese |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | No |
In silico pathogenicity prediction
Publications / Origin
- Nakatsuji T, Miwa S, Ohba Y, Miyaji T, Matsumoto N, Matsuoka I, Hemoglobin Tottori (alpha 59[E8] glycine replaced by valine)., Hemoglobin , 5(5), 427-39, 1981
Created on 2010-06-16 16:13:15,
Last reviewed on 2014-04-09 18:00:45 (Show full history)
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