IthaID: 560
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Benign / Likely Benign |
|---|---|---|---|
| Common Name: | CD 54 CAG>CGG [Gln>Arg] | HGVS Name: | HBA1:c.164A>G |
| Hb Name: | Hb Shimonoseki | Protein Info: | α2 54(E3) Gln>Arg |
Context nucleotide sequence:
ACTTCGACCTGAGCCACGGCTCTGCCC [A/G] GGTTAAGGGCCACGGCAAGAAGGTGG (Strand: +)
Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSARVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR
Also known as: Hb Hikoshima
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: | N/A |
| Oxygen Affinity: | N/A |
| Associated Phenotypes: | N/A |
Location
| Chromosome: | 16 |
|---|---|
| Locus: | NG_000006.1 |
| Locus Location: | 37860 |
| Size: | 1 bp |
| Located at: | α1 |
| Specific Location: | Exon 2 |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | Missense codons (Protein Structure) |
| Ethnic Origin: | Japanese, Greek |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | Yes |
HPLC
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D-10™ and VARIANT™ are registered trademarks of Bio-Rad Laboratories, Inc. and used with permission.
Redistribution and use of the above material is allowed only with permission by Bio-Rad Laboratories, Inc.
To access HPLC images and reports for different variants, use the IthaChrom tool.
| ID | Hb Variant | Gene | Instrument | Method | Area (%) | Ret Time (min) | Comments | ||
|---|---|---|---|---|---|---|---|---|---|
| 161 | Hb Shimonoseki | α1 | D-10 | Dual Kit Program | 14.7 | 4.17 | Heterozygous. Elutes as HbS. | [PDF] | |
| 162 | Hb Shimonoseki | α1 | VARIANT | β-thal Short Program | 14.5 | 4.21 | Heterozygous. Elutes as HbS. | [PDF] |
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
- HANADA M, RUCKNAGEL DL, The abnormality of the primary structure of hemoglobin Shimonoseki., Biochem. Biophys. Res. Commun. , 11(0), 229-38, 1963 PubMed
- MIYAJI T, IUCHI I, TAKEDA I, SHIBATA S, HEMOGLOBIN SHIMOSEKI (ALPHA-2-53ARG BETA-2-A), A SLOW-MOVING HEMOGLOBIN FOUND IN A JAPANESE FAMILY, WITH SPECIAL REFERENCE TO ITS CHEMISTRY., Nippon Ketsueki Gakkai Zasshi , 26(0), 531-7, 1963 PubMed
- HANADA M, RUCKNAGEL DL, THE CHARACTERIZATION OF HEMOGLOBIN SHIMONOSEKI., Blood , 24(0), 624-35, 1964 PubMed
- Imai K, Morimoto H, Kotani M, Shibata S, Miyaji T, Studies on the function of abnormal hemoglobins. II. Oxygen equilibrium of abnormal hemoglobins: Shimonoseki, Ube II, Hikari, Gifu, and Agenogi., Biochimica et biophysica acta, 200(2), 197-202, 1970 PubMed
- Theodoridou S, Delaki E, Skatharoudi E, Karakasidou O, Vyzantiadis TA, Theodoridis T, Chalkia P, First Report of a Coincidental Discovery of Hb Shimonoseki [α54(E3)Gln→Arg, HBA2: c.164A > G (or HBA1)] in a Greek Family., Hemoglobin, 42(4), 281-282, 2018 PubMed
- Sharma P, Bhatia P, Das R, Chhabra S, Hira JK, Hemoglobin Shimonoseki :c.164A > G Illustrating the Continuing Utility of the Sickling Test and the Challenges in Antenatal Genetic Counselling., Indian J Hematol Blood Transfus, 40(1), 166-168, 2024 PubMed
Created on 2010-06-16 16:13:15,
Last reviewed on 2024-03-11 13:26:46 (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 | 2014-03-28 14:22:54 | The IthaGenes Curation Team | Reviewed. |
| 4 | 2014-05-27 10:13:02 | The IthaGenes Curation Team | Reviewed. ClinVar link added. |
| 5 | 2021-04-07 11:01:09 | The IthaGenes Curation Team | Reviewed. HGVS, protein name and Locus location corrected. Reference added. |
| 6 | 2024-03-11 13:24:52 | The IthaGenes Curation Team | Reviewed. Reference added, Location Gene and HGVS corrected |
| 7 | 2024-03-11 13:26:46 | The IthaGenes Curation Team | Reviewed. Links |
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IthaGenes was last updated on 2024-11-20 13:24:07