IthaID: 559



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 54 CAG>GAG [Gln>Glu] HGVS Name: HBA1:c.163C>G | HBA2:c.163C>G
Hb Name: Hb Mexico Protein Info: α2 or α1 54(E3) Gln>Glu

Context nucleotide sequence:
CTTCGACCTGAGCCACGGCTCTGCC [C/G] AGGTTAAGGGCCACGGCAAGAAGGT (Strand: +)

Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAEVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR

Also known as: Hb J-Paris-II , Hb Uppsala

Location

Chromosome: 16
Locus: NG_000006.1
Locus Location: 34055 or 37859
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: Algerian, African, Indian, Mexican, Swedish
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
576Hb Mexicoα1 or α2D-10Dual Kit Program27.31.37Heterozygous.[PDF]
580Hb Mexicoα1 or α2VARIANT IIDual Kit Program28.11.49Heterozygous.[PDF]
577Hb Mexicoα1 or α2VARIANTβ-thal Short Program27.81.75Heterozygous.[PDF]
578Hb Mexicoα1 or α2VARIANT IIβ-thal Short Program27.71.82Heterozygous.[PDF]

Sequence Viewer

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Publications / Origin

  1. Jones RT, Brimhall B, Lisker R, Chemical characterization of hemoglobin-Mexico and hemoglobin-Chiapas., Biochim. Biophys. Acta , 154(3), 488-95, 1968 PubMed
  2. Fessas P, Kaltsoya A, Loukopoulos D, Nilsson LO, On the chemical structure of haemoglobin Uppsala., Hum. Hered. , 19(2), 152-8, 1969 PubMed
  3. Trabuchet G, Pagnier J, Benabadji M, Labie D, Homozygous cases for hemoglobin J Mexico (alpha54 (E3)Gln replaced by Glu) evidence for a duplicated alpha gene with unequal expression., Hemoglobin , 1(1), 13-25, 1976 PubMed
  4. Tolstoshev P, Williamson R, Eskdale J, Verdier G, Godet J, Nigon V, Trabuchet G, Benabadji M, Demonstration of two alpha-globin genes per human haploid genome for normals and Hb J Mexico., Eur. J. Biochem. , 78(1), 161-5, 1977 PubMed
  5. Trabuchet G, Benabadji M, Labie D, Genetic and biosynthetic studies of families carrying hemoglobin J alpha Mexico: association of alpha-thalassemia with HbJ., Hum. Genet. , 42(2), 189-99, 1978 PubMed
Created on 2010-06-16 16:13:15, Last reviewed on 2014-05-27 10:15:31 (Show full history)

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