IthaID: 593
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Benign / Likely Benign |
|---|---|---|---|
| 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 |
|---|---|
| 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) |
|---|---|
| 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
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
- 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
- Bilginer A, Lehmann H, Arcasoy A, Hemoglobin Ube-2 (alpha 68 Asn----Asp) observed in a Turkish family., Hemoglobin , 8(2), 189-91, 1984
- 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
- 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
Created on 2010-06-16 16:13:15,
Last reviewed on 2021-03-11 13:58:14 (Show full history)
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