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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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
Publications / Origin
- HANADA M, RUCKNAGEL DL, The abnormality of the primary structure of hemoglobin Shimonoseki., Biochem. Biophys. Res. Commun. , 11(0), 229-38, 1963
- 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
- HANADA M, RUCKNAGEL DL, THE CHARACTERIZATION OF HEMOGLOBIN SHIMONOSEKI., Blood , 24(0), 624-35, 1964
- 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
- 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
- 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
Created on 2010-06-16 16:13:15,
Last reviewed on 2024-03-11 13:26:46 (Show full history)
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