IthaID: 664



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 90 AAG>AAT (α2) or AAG>AAC (α1) [Lys>Asn] HGVS Name: HBA1:c.273G>C | HBA2:c.273G>T
Hb Name: Hb J-Broussais Protein Info: α2 90(FG2) Lys>Asn OR α1 90(FG2) Lys>Asn

Context nucleotide sequence:
TGAAGTTGACCGGGTCCACCCGAAG [A/C] TTGTGCGCGTGCAGGTCGCTCAGGG (Strand: +)

Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHNLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR

Also known as: Hb Tagawa-I

External Links

Location

Chromosome: 16
Locus: NG_000006.1
Locus Location: 34165 or 37969
Size: 1 bp or 1 bp
Located at: α1 or α2
Specific Location: Exon 2

Phenotype

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

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: Missense codons (Protein Structure)
Ethnic Origin: French, French-Canadian, Australian, Japanese
Inheritance: Recessive
DNA Sequence Determined: No
Detection Methods: Direct DNA sequencing

HPLC

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
228Hb J-Broussaisα1 or α2D-10Dual Kit Program141.12Heterozygote. Elutes near or with HbA1c. Clinically normal. [PDF]
285Hb J-Broussaisα1 or α2D-10Dual Kit Program31.10.96Heterozygote. Elutes with HbA1c.[PDF]
288Hb J-Broussaisα1 or α2VARIANT IIDual Kit Program12.21.48Heterozygote. Elutes near or with HbA1c. [PDF]
229Hb J-Broussaisα1 or α2VARIANTβ-thal Short Program24.81.62Heterozygote. Elutes near or with HbA1c. Clinically normal. [PDF]
286Hb J-Broussaisα1 or α2VARIANTβ-thal Short Program27.81.62Heterozygote. Elutes near or with HbA1c.[PDF]
287Hb J-Broussaisα1 or α2VARIANT IIβ-thal Short Program28.11.65Heterozygote. Elutes near or with HbA1c.[PDF]

Sequence Viewer

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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 2014-04-14 11:05:21 (Show full history)

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