IthaID: 719



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 116 GAG>GCG [Glu>Ala] HGVS Name: HBA1:c.350A>C | HBA2:c.350A>C
Hb Name: Hb Ube-4 Protein Info: α2 or α1 116(GH4) Glu>Ala

Context nucleotide sequence:
ACCCTGGCCGCCCACCTCCCCGCCG [A/C] GTTCACCCCTGCGGTGCACGCCTCC (Strand: +)

Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAAFTPAVHASLDKFLASVSTVLTSKYR

Location

Chromosome: 16
Locus: NG_000006.1
Locus Location: 34384 or 38195
Size: 1 bp or 1 bp
Located at: α1 or α2
Specific Location: Exon 3

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, Korean
Inheritance: Recessive
DNA Sequence Determined: No
Detection Methods: Direct DNA sequencing

Sequence Viewer

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Publications / Origin

  1. Ohba Y, Miyaji T, Matsuoka M, Morito M, Iuchi I, Characterization of Hb Ube-4: alpha 116 (GH4) Glu yield Ala., Hemoglobin , 2(2), 181-6, 1978 PubMed
  2. Iuchi I, Hidaka K, Ueda S, Shibata S, Hitomi F, Takesue A, Hb Ube-4 (alpha 116 Glu leads to Ala): a second independent instance found in a Korean family of Japan., Hemoglobin , 2(6), 561-3, 1978 PubMed
Created on 2010-06-16 16:13:16, Last reviewed on 2014-04-14 17:33:29 (Show full history)

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