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
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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
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
Created on 2010-06-16 16:13:17,
Last reviewed on 2013-10-15 17:00:14 (Show full history)
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