IthaID: 664
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Benign / Likely Benign |
|---|---|---|---|
| Common Name: | CD 90 AAG>AAT | HGVS Name: | HBA2:c.273G>T |
| Hb Name: | Hb J-Broussais | Protein Info: | α2 90(FG2) Lys>Asn |
Context nucleotide sequence:
TGAAGTTGACCGGGTCCACCCGAAG [G/T] TTGTGCGCGTGCAGGTCGCTCAGGG (Strand: +)
Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHNLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR
Also known as: Hb Tagawa-I
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: | 34165 |
| Size: | 1 bp |
| Located at: | α2 |
| Specific Location: | Exon 2 |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | Missense codons (Protein Structure) |
| Ethnic Origin: | French, French-Canadian, Australian, Japanese |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | No |
HPLC
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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 | ||
|---|---|---|---|---|---|---|---|---|---|
| 285 | Hb J-Broussais | α2 | D-10 | Dual Kit Program | 31.1 | 0.96 | Heterozygote. Elutes with HbA1c. | [PDF] | |
| 228 | Hb J-Broussais | α2 | D-10 | Dual Kit Program | 14 | 1.12 | Heterozygote. Elutes near or with HbA1c. Clinically normal. | [PDF] | |
| 286 | Hb J-Broussais | α2 | VARIANT | β-thal Short Program | 27.8 | 1.62 | Heterozygote. Elutes near or with HbA1c. | [PDF] | |
| 229 | Hb J-Broussais | α2 | VARIANT | β-thal Short Program | 24.8 | 1.62 | Heterozygote. Elutes near or with HbA1c. Clinically normal. | [PDF] | |
| 288 | Hb J-Broussais | α2 | VARIANT II | Dual Kit Program | 12.2 | 1.48 | Heterozygote. Elutes near or with HbA1c. | [PDF] | |
| 287 | Hb J-Broussais | α2 | VARIANT II | β-thal Short Program | 28.1 | 1.65 | Heterozygote. Elutes near or with HbA1c. | [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
- 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
- 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
- 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
- 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
- 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 2021-03-31 14:32:35 (Show full history)
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2010-06-16 16:13:16 | The IthaGenes Curation Team | Created |
| 2 | 2013-10-15 17:00:14 | The IthaGenes Curation Team | Reviewed. |
| 3 | 2014-04-14 11:05:21 | The IthaGenes Curation Team | Reviewed. Added references, common name and synonym. |
| 4 | 2021-03-31 14:32:35 | The IthaGenes Curation Team | Reviewed. HGVS and protein name corrected |
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IthaGenes was last updated on 2024-11-20 13:24:07