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:

Protein sequence:

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.


Hemoglobinopathy Group: Structural Haemoglobinopathy
Hemoglobinopathy Subgroup: α-chain variant
Allele Phenotype:N/A
Stability: N/A
Oxygen Affinity: N/A
Associated Phenotypes: N/A


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

Sequence Viewer

Note: The NCBI Sequence Viewer is not installed on the ITHANET servers but it is embedded in this page from the NCBI. Therefore, IthaGenes has no responsibility over any temporary unavailability of the service. In such a case, please Refresh the page or retry at a later stage. Otherwise, use this external link.

Publications / Origin

  1. 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
  2. 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
  3. 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
  4. 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
  5. 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)

Disclaimer: The information on this website is provided as an information resource only and must not to be used as a substitute for professional diagnosis and treatment. The ITHANET Portal and IthaGenes are not responsible or liable for any advice, course of treatment, diagnosis or any other information, services or products that an individual obtains through this website.