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
Publications / Origin
- Ohba Y, Miyaji T, Hattori Y, Fuyuno K, Matsuoka M, Unstable hemoglobins in Japan., Hemoglobin , 4(3), 307-12, 1980
- 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
Created on 2010-06-16 16:13:16,
Last reviewed on 2014-04-14 09:30:58 (Show full history)
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