IthaID: 720

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Benign / Likely Benign
Common Name: CD 116 GAG>AAG [Glu>Lys] HGVS Name: HBA1:c.349G>A
Hb Name: Hb O-Indonesia Protein Info: α1 116(GH4) Glu>Lys

Context nucleotide sequence:

Protein sequence:

Also known as: Hb Buginese-X, Hb Oliviere

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links


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


Chromosome: 16
Locus: NG_000006.1
Locus Location: 38194
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: Buginese, Chinese, Iranian, Italian, Makassars, South African, Indian
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: No

In silico pathogenicity prediction

Sequence Viewer

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Publications / Origin

  1. Molchanova TP, Pobedimskaya DD, Huisman TH, The differences in quantities of alpha 2- and alpha 1-globin gene variants in heterozygotes., Br. J. Haematol. , 88(2), 300-6, 1994 PubMed
  2. Daud D, Harahap A, Setianingsih I, Nainggolan I, Tranggana S, Pakasi R, Marzuki S, The hemoglobin O mutation in Indonesia: distribution and phenotypic expression., J. Hum. Genet. , 46(9), 499-505, 2001 PubMed
  3. Kumar R, Patel P, Gwal A, Bharti PK, Colah R, Rajasubramaniam S, Clinico-Hematological Presentation of Rare Hemoglobin Variant (HB-O Indonesia) in 3 Families., Indian J Hematol Blood Transfus, 35(3), 596-598, 2019 PubMed
Created on 2010-06-16 16:13:16, Last reviewed on 2020-01-29 16:05:44 (Show full history)

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