IthaID: 465
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Benign / Likely Benign |
|---|---|---|---|
| Common Name: | CD 15 GGT>CGT [Gly>Arg] | HGVS Name: | HBA1:c.46G>C |
| Hb Name: | Hb Ottawa | Protein Info: | α1 15(A13) Gly>Arg |
Context nucleotide sequence:
CAAGACCAACGTCAAGGCCGCCTGG [G/C] GTAAGGTCGGCGCGCACGCTGGCGA (Strand: +)
Protein sequence:
MVLSPADKTNVKAAWRKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR
Also known as: Hb Siam
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: | 37625 |
| Size: | 1 bp |
| Located at: | α1 |
| Specific Location: | Exon 1 |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | Missense codons (Protein Structure) |
| Ethnic Origin: | Canadian, Polish, Chinese, Thai |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | Yes |
In silico pathogenicity prediction
Publications / Origin
- Pootrakul S, Srichiyanont S, Wasi P, Suanpan S, Hemoglobin Siam (alpha 2 15 arg beta 2): a new alpha-chain variant., Humangenetik , 23(3), 199-204, 1974
- Turbpaiboon C, Svasti S, Sawangareetakul P, Winichagoon P, Srisomsap C, Siritanaratkul N, Fucharoen S, Wilairat P, Svasti J, Hb Siam [alpha15(A13)Gly-->Arg (alpha1) (GGT-->CGT)] is a typical alpha chain hemoglobinopathy without an alpha-thalassemic effect., Hemoglobin , 26(1), 77-81, 2002
- Fucharoen S, Singsanan S, Hama A, Fucharoen G, Sanchaisuriya K, Rapid molecular characterization of Hb Queens and Hb Siam: two variants easily misidentified as sickle Hb., Clin Biochem, 40(0), 137-40, 2007
Created on 2010-06-16 16:13:15,
Last reviewed on 2021-03-11 16:49:56 (Show full history)
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