IthaID: 719

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Variant of Uncertain Significance
Common Name: CD 116 GAG>GCG [Glu>Ala] HGVS Name: HBA1:c.350A>C
Hb Name: Hb Ube-4 Protein Info: α1 116(GH4) Glu>Ala

Context nucleotide sequence:

Protein sequence:

Also known as:

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: 38195
Size: 1 bp
Located at: α1
Specific Location: Exon 3

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: Missense codons (Protein Structure)
Ethnic Origin: Japanese, Korean
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: Yes

In silico pathogenicity prediction

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
  3. Huang Y, Lin M, Lin CP, Wu JR, Zheng LH, Yang LY, Molecular characteristics of three hemoglobin variants observed in a Chinese population: Hb Ube-1 [β98 (FG5) Val→Met], Hb Ube‑2 [α68 (E17) Asn→Asp] and Hb Ube‑4 [α116 (GH4) Glu→Ala]., Mol Med Rep, 4(4), 681-5, 2011 PubMed
Created on 2010-06-16 16:13:16, Last reviewed on 2021-04-07 12:31:42 (Show full history)

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