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 |
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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) |
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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
Note:
The impact thresholds provided in this section are based on the analyses performed in Tamana et.al. For any given tool, the impact thresholds defined for the set of variants with the same effect on function as the variant examined, are preferred over those defined for the full dataset.
Sequence Viewer
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Publications / Origin
- Jones RT, Brimhall B, Lisker R, Chemical characterization of hemoglobin-Mexico and hemoglobin-Chiapas., Biochim. Biophys. Acta , 154(3), 488-95, 1968 PubMed
- Fessas P, Kaltsoya A, Loukopoulos D, Nilsson LO, On the chemical structure of haemoglobin Uppsala., Hum. Hered. , 19(2), 152-8, 1969 PubMed
- 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
- 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
- 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
- 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)
A/A | Date | Curator(s) | Comments |
---|---|---|---|
1 | 2010-06-16 16:13:15 | The IthaGenes Curation Team | Created |
2 | 2013-10-15 17:00:14 | The IthaGenes Curation Team | Reviewed. |
3 | 2014-03-28 14:18:23 | The IthaGenes Curation Team | Reviewed. |
4 | 2014-05-27 10:15:31 | The IthaGenes Curation Team | Reviewed. ClinVar link added. |
5 | 2021-04-07 10:58:59 | The IthaGenes Curation Team | Reviewed. HGVS, protein name and Locus location corrected. Reference added. |
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IthaGenes was last updated on 2024-12-12 10:33:52