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:
CTTCGACCTGAGCCACGGCTCTGCC [C/G] AGGTTAAGGGCCACGGCAAGAAGGT (Strand: +)
Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAEVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR
Also known as: Hb J-Paris-II, Hb Uppsala
We follow the HGVS sequence variant nomenclature and IUPAC standards.
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 |
Location
| 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 |
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 | ||
|---|---|---|---|---|---|---|---|---|---|
| 576 | Hb Mexico | α1 | D-10 | Dual Kit Program | 27.3 | 1.37 | Heterozygous. | [PDF] | |
| 577 | Hb Mexico | α1 | VARIANT | β-thal Short Program | 27.8 | 1.75 | Heterozygous. | [PDF] | |
| 578 | Hb Mexico | α1 | VARIANT II | β-thal Short Program | 27.7 | 1.82 | Heterozygous. | [PDF] | |
| 580 | Hb Mexico | α1 | VARIANT II | Dual Kit Program | 28.1 | 1.49 | Heterozygous. | [PDF] |
In silico pathogenicity prediction
Publications / Origin
- Jones RT, Brimhall B, Lisker R, Chemical characterization of hemoglobin-Mexico and hemoglobin-Chiapas., Biochim. Biophys. Acta , 154(3), 488-95, 1968
- Fessas P, Kaltsoya A, Loukopoulos D, Nilsson LO, On the chemical structure of haemoglobin Uppsala., Hum. Hered. , 19(2), 152-8, 1969
- 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
- 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
- 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
- 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
Created on 2010-06-16 16:13:15,
Last reviewed on 2021-04-07 10:58:59 (Show full history)
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