IthaID: 679
Names and Sequences
Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
---|---|---|---|
Common Name: | CD 94 GAC>GAG [Asp>Glu] | HGVS Name: | HBA1:c.285C>G | HBA2:c.285C>G |
Hb Name: | Hb Roanne | Protein Info: | α2 or α1 94(G1) Asp>Glu |
Context nucleotide sequence:
TGCACGCGCACAAGCTTCGGGTGGA [C/G] CCGGTCAACTTCAAGGTGAGCGGCG (Strand: +)
Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVEPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR
Also known as:
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: | Unstable |
Oxygen Affinity: | Decreased Oxygen Affinity |
Associated Phenotypes: | N/A |
Location
Chromosome: | 16 |
---|---|
Locus: | NG_000006.1 |
Locus Location: | 34177 or 37981 |
Size: | 1 bp or 1 bp |
Located at: | α1 or 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 |
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 | ||
---|---|---|---|---|---|---|---|---|---|
97 | Hb Roanne | α1 or α2 | D-10 | Dual Kit Program | 87 | 1.7 | Heterozygote clinically normal. Elutes as HbA. | [PDF] | |
98 | Hb Roanne | α1 or α2 | VARIANT | β-thal Short Program | 88.5 | 2.48 | Heterozygote clinically normal. Elutes as HbA. | [PDF] | |
99 | Hb Roanne | α1 or α2 | VARIANT II | β-thal Short Program | 89.1 | 2.43 | Heterozygote clinically normal. Elutes as HbA. | [PDF] | |
100 | Hb Roanne | α1 or α2 | VARIANT II | Dual Kit Program | 87.9 | 1.76 | Heterozygote clinically normal. Elutes as HbA. | [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
- Kister J, Kiger L, Francina A, Hanny P, Szymanowicz A, Blouquit Y, Promé D, Galactéros F, Delaunay J, Wajcman H, Hemoglobin Roanne [alpha 94(G1) Asp-->Glu]: a variant of the alpha 1 beta 2 interface with an unexpected high oxygen affinity., Biochim. Biophys. Acta , 1246(1), 34-8, 1995 PubMed
Created on 2010-06-16 16:13:16,
Last reviewed on 2014-04-14 13:09:38 (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 13:09:38 | The IthaGenes Curation Team | Reviewed. Added common name, reference and allele phenotype. |
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IthaGenes was last updated on 2024-12-12 10:33:52