IthaID: 664

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Benign / Likely Benign
Common Name: CD 90 AAG>AAT HGVS Name: HBA2:c.273G>T
Hb Name: Hb J-Broussais Protein Info: α2 90(FG2) Lys>Asn

Context nucleotide sequence:

Protein sequence:

Also known as: Hb Tagawa-I

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: N/A
Oxygen Affinity: N/A
Associated Phenotypes: N/A


Chromosome: 16
Locus: NG_000006.1
Locus Location: 34165
Size: 1 bp
Located at: α2
Specific Location: Exon 2

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: Missense codons (Protein Structure)
Ethnic Origin: French, French-Canadian, Australian, Japanese
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
285Hb J-Broussaisα2D-10Dual Kit Program31.10.96Heterozygote. Elutes with HbA1c.[PDF]
228Hb J-Broussaisα2D-10Dual Kit Program141.12Heterozygote. Elutes near or with HbA1c. Clinically normal. [PDF]
286Hb J-Broussaisα2VARIANTβ-thal Short Program27.81.62Heterozygote. Elutes near or with HbA1c.[PDF]
229Hb J-Broussaisα2VARIANTβ-thal Short Program24.81.62Heterozygote. Elutes near or with HbA1c. Clinically normal. [PDF]
288Hb J-Broussaisα2VARIANT IIDual Kit Program12.21.48Heterozygote. Elutes near or with HbA1c. [PDF]
287Hb J-Broussaisα2VARIANT IIβ-thal Short Program28.11.65Heterozygote. Elutes near or with HbA1c.[PDF]

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. de Traverse PM, Lehmann H, Coquelet ML, Beale D, Isaacs WA, [Study of an alpha J hemoglobin not previously described, in a French family]., C. R. Seances Soc. Biol. Fil. , 160(12), 2270-2, 1966 PubMed
  2. Vella F, Charlesworth D, Lorkin PA, Lehmann H, Hemoglobin Broussais: alpha-90 lys changed to asn., Can. J. Biochem. , 48(8), 908-10, 1970 PubMed
  3. Braconnier F, Cohen-Solal M, Schlegel N, Blouquit Y, Thillet J, de Linval JC, Rosa J, [Hemoglobin J. Broussais alpha-2 90 Lys leads to Asn beta-2A (FG2) discovered in a Martinique family. Comparison of several analytical technics]., Nouv Rev Fr Hematol , 15(3), 333-42, 1975 PubMed
  4. Fleming PJ, Arnold BJ, Thompson EO, Hughes WG, Morgan L, Hb I alpha16 Lys leads to Glu and Hb Broussais alpha90 Lys leads to Asn in Australian families., Pathology , 10(4), 317-27, 1978 PubMed
  5. 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
Created on 2010-06-16 16:13:16, Last reviewed on 2021-03-31 14:32:35 (Show full history)

Disclaimer: The information on this website is provided as an information resource only and must not to be used as a substitute for professional diagnosis and treatment. The ITHANET Portal and IthaGenes are not responsible or liable for any advice, course of treatment, diagnosis or any other information, services or products that an individual obtains through this website.