IthaID: 559

Names and Sequences

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

Context nucleotide sequence:

Protein sequence:

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

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: 37859
Size: 1 bp
Located at: α1
Specific Location: Exon 2

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: Missense codons (Protein Structure)
Ethnic Origin: Algerian, African, Indian, Mexican, Swedish
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: Yes


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 Mexicoα1D-10Dual Kit Program27.31.37Heterozygous.[PDF]
577Hb Mexicoα1VARIANTβ-thal Short Program27.81.75Heterozygous.[PDF]
578Hb Mexicoα1VARIANT IIβ-thal Short Program27.71.82Heterozygous.[PDF]
580Hb Mexicoα1VARIANT IIDual Kit Program28.11.49Heterozygous.[PDF]

In silico pathogenicity prediction

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
  6. Henderson SJ, Timbs AT, McCarthy J, Gallienne AE, Proven M, Rugless MJ, Lopez H, Eglinton J, Dziedzic D, Beardsall M, Khalil MS, Old JM, Ten Years of Routine α- and β-Globin Gene Sequencing in UK Hemoglobinopathy Referrals Reveals 60 Novel Mutations., Hemoglobin , 40(2), 75-84, 2016 PubMed
Created on 2010-06-16 16:13:15, Last reviewed on 2021-04-07 10:58:59 (Show full history)

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