IthaID: 589
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | CD 64 GAC>GGC [Asp>Gly] | HGVS Name: | HBA1:c.194A>G | HBA2:c.194A>G |
| Hb Name: | Hb Guangzhou-Hangzhou | Protein Info: | α2 or α1 64(E13) Asp>Gly |
Context nucleotide sequence:
AAGGGCCACGGCAAGAAGGTGGCCG [A/G] CGCGCTGACCAACGCCGTGGCGCAC (Strand: +)
Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVAGALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR
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: | 34086 or 37890 |
| 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: | Chinese |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | No |
In silico pathogenicity prediction
Publications / Origin
- Jen PC, Liu Y, Hemoglobin Guangzhou, alpha 64(E13)Asp----Gly, a new abnormal hemoglobin found in Guangzhou, China., Hemoglobin , 11(1), 25-30, 1987
- Zhou ZQ, Chen LC, Chen PF, Zhang KQ, Wang YH, Hemoglobin Hangzhou alpha 64(E13)Asp----Gly. A new variant found in China., Hemoglobin , 11(1), 31-3, 1987
Created on 2010-06-16 16:13:15,
Last reviewed on 2014-04-10 08:18:20 (Show full history)
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