IthaID: 551
Names and Sequences
Functionality: | Globin gene causative mutation | Pathogenicity: | Pathogenic / Likely Pathogenic |
---|---|---|---|
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/T] CGGCTCTGCCCAGGTTAAGGGCCAC (Strand: +)
Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSRGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR
Also known as:
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 |
Phenotype
Hemoglobinopathy Group: | Structural Haemoglobinopathy |
---|---|
Hemoglobinopathy Subgroup: | α-chain variant |
Allele Phenotype: | N/A |
Stability: | Unstable |
Oxygen Affinity: | N/A |
Associated Phenotypes: | N/A |
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 |
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] |
Sequence Viewer
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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 PubMed
Created on 2010-06-16 16:13:15,
Last reviewed on 2015-12-14 11:32:49 (Show full history)
A/A | Date | Curator(s) | Comments |
---|---|---|---|
1 | 2010-06-16 16:13:15 | The IthaGenes Curation Team | Created |
2 | 2013-10-15 17:00:14 | The IthaGenes Curation Team | Reviewed. |
3 | 2014-03-27 13:33:17 | The IthaGenes Curation Team | Reviewed. |
4 | 2015-12-14 11:32:49 | The IthaGenes Curation Team | Reviewed. |
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IthaGenes was last updated on 2021-01-15 14:32:59