IthaID: 717

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: CD 115 GCC>GAC [Ala>Asp] HGVS Name: HBA1:c.347C>A | HBA2:c.347C>A
Hb Name: Hb J-Tongariki Protein Info: α2 or α1 115(GH3) Ala>Asp

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: 34381 or 38192
Size: 1 bp or 1 bp
Located at: α1 or α2
Specific Location: Exon 3

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: Missense codons (Protein Structure)
Ethnic Origin: Kilengi, Melanesian
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: No


Disclaimer: The HPLC images are provided as an information resource only. Bio-Rad Laboratories, Inc and the ITHANET Portal disclaim responsibility and have no liability if this information is used for diagnostic or treatment purposes. D-10™ and VARIANT™ are registered trademarks of Bio-Rad Laboratories, Inc. and used with permission. Redistribution and use of the above material is allowed only with permission by Bio-Rad Laboratories, Inc. To access HPLC images and reports for different variants, use the IthaChrom tool.
ID Hb Variant Gene Instrument Method Area (%) Ret Time (min) Comments
170Hb J-Tongarikiα1 or α2D-10Dual Kit Program20.31.59Heterozygous. Associated with alpha 3.7. [PDF]
171Hb J-Tongarikiα1 or α2VARIANTβ-thal Short Program21.81.82Heterozygous. Associated with alpha 3.7 [PDF]
172Hb J-Tongarikiα1 or α2VARIANT IIβ-thal Short Program22.61.91Heterozygous. Associated with alpha 3.7 [PDF]
173Hb J-Tongarikiα1 or α2VARIANT IIDual Kit Program21.61.684Heterozygous. Associated with alpha 3.7 [PDF]
187Hb J-Tongarikiα1 or α2VARIANTβ-thal Short Program19.31.78Heterozygous. Associated with alpha 3.7 [PDF]

In silico pathogenicity prediction

Sequence Viewer

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Publications / Origin

  1. Abramson RK, Rucknagel DL, Shreffler DC, Saave JJ, Homozygous Hb J Tongariki: evidence for only one alpha chain structural locus in Melanesians., Science , 169(3941), 194-6, 1970 PubMed
  2. Old JM, Clegg JB, Weatherall DJ, Booth PB, Haemoglobin J Tongariki is associated with alpha thalassaemia., Nature , 273(5660), 319-20, 1978 PubMed
Created on 2010-06-16 16:13:16, Last reviewed on 2014-04-14 17:25:58 (Show full history)

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