IthaID: 593
Names and Sequences
Functionality: | Globin gene causative mutation | Pathogenicity: | Benign / Likely Benign |
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Common Name: | CD 68 AAC>GAC [Asn>Asp] | HGVS Name: | HBA2:c.205A>G |
Hb Name: | Hb Ube-2 | Protein Info: | α2 68(E17) Asn>Asp |
Context nucleotide sequence:
CAAGAAGGTGGCCGACGCGCTGACC [A/G] ACGCCGTGGCGCACGTGGACGACAT (Strand: +)
Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTDAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR
Also known as:
Comments: Found in a Taiwanese male presented with normal hematological indices. Quantitation of the variant shown an Hb X 25.1% migrated faster than the Hb A [PMID:11939522].
We follow the HGVS sequence variant nomenclature and IUPAC standards.
Phenotype
Hemoglobinopathy Group: | Structural Haemoglobinopathy |
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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: | 34097 |
Size: | 1 bp |
Located at: | α2 |
Specific Location: | Exon 2 |
Other details
Type of Mutation: | Point-Mutation(Substitution) |
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Effect on Gene/Protein Function: | Missense codons (Protein Structure) |
Ethnic Origin: | Japanese, Taiwanese, Chinese |
Molecular mechanism: | N/A |
Inheritance: | Recessive |
DNA Sequence Determined: | Yes |
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
- Miyaji T, Iuchi I, Yamamoto K, Ohba Y, Shibata S, Amino acid substitution of hemoglobin Ube 2 (alpha-2 68asp beta-2): an example of successful application of partial hydrolysis of peptide with 5 per cent acetic acid., Clin. Chim. Acta , 16(3), 347-52, 1967 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
- Bilginer A, Lehmann H, Arcasoy A, Hemoglobin Ube-2 (alpha 68 Asn----Asp) observed in a Turkish family., Hemoglobin , 8(2), 189-91, 1984 PubMed
- Cotton F, Hansen V, Lin C, Parma J, Cochaux P, Damis E, Vertongen F, Gulbis B, Hb Ube-2 [alpha68(E17)Asn-Asp] and Hb Hafnia [beta116(G18)His-->Gln] observed during neonatal screening in Brussels., Hemoglobin , 24(1), 65-9, 2000 PubMed
- Shin MC, Chen CM, Liu SC, Huang CH, Lee TP, Chan WL, Chang JG, Hb Ube-2 in a Taiwanese subject: an A-->G substitution at codon 68 of the alpha2-globin gene., Hemoglobin , 26(1), 99-101, 2002 PubMed
Created on 2010-06-16 16:13:15,
Last reviewed on 2021-03-11 13:58:14 (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 | 2014-04-10 08:23:25 | The IthaGenes Curation Team | Reviewed. |
4 | 2014-05-17 16:01:51 | The IthaGenes Curation Team | Reviewed. Additional references and ClinVar link added. |
5 | 2021-03-11 13:58:14 | The IthaGenes Curation Team | Reviewed. Selected gene, HGVS and protein name corrected. Comment and Reference added. |
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IthaGenes was last updated on 2024-09-28 12:00:32