IthaID: 744
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | CD 127 AAG>ACG [Lys>Thr] | HGVS Name: | HBA1:c.383A>C | HBA2:c.383A>C |
| Hb Name: | Hb St. Claude | Protein Info: | α2 or α1 127(H10) Lys>Thr |
Context nucleotide sequence:
CCTGCGGTGCACGCCTCCCTGGACA [A/C] GTTCCTGGCTTCTGTGAGCACCGTG (Strand: +)
Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDTFLASVSTVLTSKYR
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: | N/A |
| Oxygen Affinity: | N/A |
| Associated Phenotypes: | N/A |
Location
| Chromosome: | 16 |
|---|---|
| Locus: | NG_000006.1 |
| Locus Location: | 34417 or 38228 |
| Size: | 1 bp or 1 bp |
| Located at: | α1 or α2 |
| Specific Location: | Exon 3 |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | Missense codons (Protein Structure) |
| Ethnic Origin: | French, Canadian |
| 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 | ||
|---|---|---|---|---|---|---|---|---|---|
| 55 | Hb St. Claude | α1 or α2 | D-10 | Dual Kit Program | 21.8 | 1.42 | Heterozygous. Clinically normal. | [PDF] | |
| 56 | Hb St. Claude | α1 or α2 | VARIANT II | β-thal Short Program | 22.4 | 1.88 | Heterozygous. Clinically normal. | [PDF] | |
| 57 | Hb St. Claude | α1 or α2 | VARIANT II | Dual Kit Program | 22.1 | 1.49 | Heterozygous. Clinically normal. | [PDF] |
In silico pathogenicity prediction
Publications / Origin
- Vella F, Galbraith P, Wilson JB, Wong SC, Folger GC, Huisman TJ, Hemoglobin St. Claude or alpha2-127(H10)Lys leads to Thr-beta2., Biochim. Biophys. Acta , 365(2), 318-22, 1974
Created on 2010-06-16 16:13:16,
Last reviewed on 2014-04-15 09:48:43 (Show full history)
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