IthaID: 551
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | CD 50 CAC>CGC [His>Arg] | HGVS Name: | HBA1:c.152A>G | HBA2:c.152A>G |
| Hb Name: | Hb Aichi | Protein Info: | α2 or α1 50(CE8) His>Arg |
Context nucleotide sequence:
TACTTCCCGCACTTCGACCTGAGCC [A/G] CGGCTCTGCCCAGGTTAAGGGCCAC (Strand: +)
Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSRGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR
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: | 34044 or 37848 |
| 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: | Japanese, French Caucasian |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | No |
HPLC
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To access HPLC images and reports for different variants, use the IthaChrom tool.
| ID | Hb Variant | Gene | Instrument | Method | Area (%) | Ret Time (min) | Comments | ||
|---|---|---|---|---|---|---|---|---|---|
| 599 | Hb Aichi | α1 or α2 | D-10 | Dual Kit Program | 21.9 | 4.05 | Heterozygous. Elutes as HbS. | [PDF] | |
| 600 | Hb Aichi | α1 or α2 | VARIANT | β-thal Short Program | 19.7 | 4.17 | Heterozygous. Elutes as HbS. | [PDF] | |
| 601 | Hb Aichi | α1 or α2 | VARIANT II | β-thal Short Program | 21.1 | 4.33 | Heterozygous. Elutes as HbS. | [PDF] | |
| 602 | Hb Aichi | α1 or α2 | VARIANT II | Dual Kit Program | 22.5 | 3.465 | Heterozygous. Elutes as HbS. | [PDF] |
In silico pathogenicity prediction
Publications / Origin
- Harano T, Harano K, Shibata S, Ueda S, Mori H, Seki M, Hemoglobin Aichi [alpha 50(CE8) His----Arg]: a new slightly unstable hemoglobin variant discovered in Japan., FEBS Lett. , 169(2), 297-9, 1984
- Baudin V, Baklouti F, Wajcman H, Delaunay J, Hemoglobin Aichi [alpha 50(CE8)His----Arg] in a French Caucasian patient., Hemoglobin, 11(2), 145-9, 1987
Created on 2010-06-16 16:13:15,
Last reviewed on 2022-05-11 11:00:15 (Show full history)
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