IthaID: 704
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | CD 110 GCC>ACC [Ala>Thr] | HGVS Name: | HBA1:c.331G>A | HBA2:c.331G>A |
| Hb Name: | Hb Tonosho | Protein Info: | α2 or α1 110(G17) Ala>Thr |
| Also known as: |
We follow the
HGVS sequence variant nomenclature
and
IUPAC standards.
Context nucleotide sequence:
AAGCCACTGCCTGCTGGTGACCCTG [A/G] CCGCCCACCTCCCCGCCGAGTTCAC (Strand: +)
Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLTAHLPAEFTPAVHASLDKFLASVSTVLTSKYR
Phenotype
| Hemoglobinopathy Group: | Structural Haemoglobinopathy |
|---|---|
| Hemoglobinopathy Subgroup: | α-chain variant |
| Allele Phenotype: | N/A |
| Stability: | Unstable |
| Oxygen Affinity: | Increased Oxygen Affinity |
| Associated Phenotypes: | N/A |
Location
| Chromosome: | 16 |
|---|---|
| Locus: | NG_000006.1 |
| Locus Location: | 34365 or 38176 |
| Size: | 1 bp or 1 bp |
| Located at: | α1 or α2 |
| Specific Location: | Exon 3 |
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
- Ohba Y, Fujisawa K, Imai K, Leowattana W, Tani Y, Ami M, Miyaji T, A new alpha chain variant Hb Tonosho [alpha 110(G17)Ala----Thr]: subunit dissociation during cation exchange chromatography for Hb A1c assay., Hemoglobin , 14(4), 413-22, 1990
Created on 2010-06-16 16:13:16,
Last reviewed on 2014-04-14 16:36:39 (Show full history)
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