IthaID: 1282
Names and Sequences
Functionality: | Globin gene causative mutation | Pathogenicity: | Pathogenic / Likely Pathogenic |
---|---|---|---|
Common Name: | CD 140 GCC>ACC | HGVS Name: | HBB:c.421G>A |
Hb Name: | Hb Saint-Jacques | Protein Info: | β 140(H18) Ala>Thr |
Context nucleotide sequence:
GAAAGTGGTGGCTGGTGTGGCTAAT [A/G] CCCTGGCCCACAAGTATCACTAAGC (Strand: -)
Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFATLSELHCDKLHVDPENFRLLGNVLVCVLAHHFGKEFTPPVQAAYQKVVAGVANTLAHKYH
Also known as:
We follow the HGVS sequence variant nomenclature and IUPAC standards.
Phenotype
Hemoglobinopathy Group: | Structural Haemoglobinopathy |
---|---|
Hemoglobinopathy Subgroup: | β-chain variant |
Allele Phenotype: | N/A |
Stability: | N/A |
Oxygen Affinity: | Increased Oxygen Affinity |
Associated Phenotypes: | N/A |
Location
Chromosome: | 11 |
---|---|
Locus: | NG_000007.3 |
Locus Location: | 71995 |
Size: | 1 bp |
Located at: | β |
Specific Location: | Exon 3 |
Other details
Type of Mutation: | Point-Mutation(Substitution) |
---|---|
Effect on Gene/Protein Function: | Missense codons (Protein Structure) |
Ethnic Origin: | Caucasian |
Molecular mechanism: | N/A |
Inheritance: | Recessive |
DNA Sequence Determined: | No |
HPLC
Disclaimer: The HPLC images are provided as an information resource only.
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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 | ||
---|---|---|---|---|---|---|---|---|---|
114 | Hb Saint-Jacques | β | D-10 | Dual Kit Program | 76.1 | 1.72 | Heterozygous. Hb variant with increased oxygen affinity. | [PDF] | |
115 | Hb Saint-Jacques | β | VARIANT | β-thal Short Program | 79.2 | 2.5 | Heterozygous. Hb variant with increased oxygen affinity. | [PDF] | |
116 | Hb Saint-Jacques | β | VARIANT II | β-thal Short Program | 80.5 | 2.56 | Heterozygous. Hb variant with increased oxygen affinity. | [PDF] | |
117 | Hb Saint-Jacques | β | VARIANT II | Dual Kit Program | 29.6 | 2.316 | Heterozygous. Hb variant with increased oxygen affinity. | [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
- Rochette J, Varet B, Boissel JP, Clough K, Labie D, Wajcman H, Bohn B, Magne P, Poyart C, Structure and function of Hb Saint-Jacques (alpha 2 beta 2 140 (H18) Ala----Thr): a new high-oxygen-affinity variant with altered bisphosphoglycerate binding., Biochimica et biophysica acta, 785(1), 14-21, 1984 PubMed
Created on 2010-06-16 16:13:17,
Last reviewed on 2013-10-15 17:00:14 (Show full history)
A/A | Date | Curator(s) | Comments |
---|---|---|---|
1 | 2010-06-16 16:13:17 | The IthaGenes Curation Team | Created |
2 | 2013-10-15 17:00:14 | The IthaGenes Curation Team | Reviewed. |
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IthaGenes was last updated on 2024-10-08 13:09:20