IthaID: 593



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 68 AAC>GAC [Asn>Asp] HGVS Name: HBA1:c.205A>G | HBA2:c.205A>G
Hb Name: Hb Ube-2 Protein Info: α2 or α1 68(E17) Asn>Asp

Context nucleotide sequence:
CAAGAAGGTGGCCGACGCGCTGACC [A/C/G/T] ACGCCGTGGCGCACGTGGACGACAT (Strand: +)

Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTDAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR

Location

Chromosome: 16
Locus: NG_000006.1
Locus Location: 34097 or 37901
Size: 1 bp or 1 bp
Located at: α1 or α2
Specific Location: Exon 2

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

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: Missense codons (Protein Structure)
Ethnic Origin: Japanese, Taiwanese
Inheritance: Recessive
DNA Sequence Determined: No
Detection Methods: Direct DNA sequencing

Sequence Viewer

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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 2014-05-17 16:01:51 (Show full history)

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