IthaID: 648
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | CD 87 CAC>CGC [His>Arg] | HGVS Name: | HBA1:c.263A>G | HBA2:c.263A>G |
| Hb Name: | Hb Iwata | Protein Info: | α2 or α1 87(F8) His>Arg |
Context nucleotide sequence:
GCGCTGTCCGCCCTGAGCGACCTGC [A/C/G] CGCGCACAAGCTTCGGGTGGACCCG (Strand: +)
Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLRAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR
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: | N/A |
Location
| Chromosome: | 16 |
|---|---|
| Locus: | NG_000006.1 |
| Locus Location: | 34155 or 37959 |
| 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, Japanese |
| Molecular mechanism: | Altered heme pocket |
| Inheritance: | Recessive |
| DNA Sequence Determined: | No |
In silico pathogenicity prediction
Note:
The impact thresholds provided in this section are based on the analyses performed in Tamana et.al. For any given tool, the impact thresholds defined for the set of variants with the same effect on function as the variant examined, are preferred over those defined for the full dataset.
Sequence Viewer
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Publications / Origin
- Ohba Y, Miyaji T, Hattori Y, Fuyuno K, Matsuoka M, Unstable hemoglobins in Japan., Hemoglobin , 4(3), 307-12, 1980 PubMed
- Liu GY, Zhang GX, Nie SY, Luo HY, Teng YQ, Liu SP, Song M, Son L, Chen SS, Jia PC, Liang CC, A case of hemoglobin Iwata [alpha 87(F8)His leads to Arg] in China., Hemoglobin , 7(3), 279-82, 1983 PubMed
Created on 2010-06-16 16:13:16,
Last reviewed on 2014-04-14 09:30:58 (Show full history)
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2010-06-16 16:13:16 | The IthaGenes Curation Team | Created |
| 2 | 2013-10-15 17:00:14 | The IthaGenes Curation Team | Reviewed. |
| 3 | 2014-04-14 09:30:58 | The IthaGenes Curation Team | Reviewed. Added reference, common name and allele phenotype. |
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IthaGenes was last updated on 2024-11-20 13:24:07