IthaID: 449
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | CD 6 GAC>GCC [Asp>Ala] | HGVS Name: | HBA1:c.20A>C | HBA2:c.20A>C |
| Hb Name: | Hb Sawara | Protein Info: | α2 or α1 6(A4) Asp>Ala |
Context nucleotide sequence:
CCCACCATGGTGCTGTCTCCTGCCG [A/C/G/T] CAAGACCAACGTCAAGGCCGCCTGG (Strand: +)
Protein sequence:
MVLSPAAKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR
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: | Increased Oxygen Affinity |
| Associated Phenotypes: | N/A |
Location
| Chromosome: | 16 |
|---|---|
| Locus: | NG_000006.1 |
| Locus Location: | 33795 or 37599 |
| 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: | Japanese |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | No |
In silico pathogenicity prediction
Publications / Origin
- Sumida I, Ota Y, Imamura T, Yanase T, Hemoglobin Sawara: alpha 6(A4) aspartic acid leads to alanine., Biochim. Biophys. Acta , 322(1), 23-6, 1973
- Sumida I, Studies of abnormal hemoglobins in western Japan. Frequency of visible hemoglobin variants, and chemical characterization of hemoglobin Sawara (alpha 26Alabeta2) and hemoglobin Mugino (Hb L Ferrara; alpha247Glybeta2)., Jinrui Idengaku Zasshi , 19(4), 343-63, 1975
- Sasaki J, Imamura T, Sumida I, Yanase T, Ohya M, Increased oxygen affinity for hemoglobin Sawara: alphaA4(6) aspartic acid replaced by alanine., Biochim. Biophys. Acta , 495(1), 183-6, 1977
Created on 2010-06-16 16:13:15,
Last reviewed on 2014-03-12 15:58:29 (Show full history)
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