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:
GACCCTGGCCGCCCACCTCCCCGCC [A/C/G] AGTTCACCCCTGCGGTGCACGCCTC (Strand: +)

Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAKFTPAVHASLDKFLASVSTVLTSKYR

Also known as: Hb Buginese-X, Hb Oliviere

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

Phenotype

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

Location

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

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. 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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