IthaID: 2306
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Pathogenic / Likely Pathogenic |
|---|---|---|---|
| Common Name: | CD 1 GTG>CTG (Val>Leu) | HGVS Name: | HBA2:c.4G>C |
| Hb Name: | Hb St. Josef | Protein Info: | α2 1(NA1) Val>Leu |
Context nucleotide sequence:
ACAGACTCAGAGAGAACCCACCATG [A/C/G] TGCTGTCTCCTGCCGACAAGACCAA (Strand: +)
Protein sequence:
MLLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR
Also known as:
Comments: The same mutation has been described in the α1 gene (Hb Baldock - ithaID: 429)
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: | Decreased Oxygen Affinity |
| Associated Phenotypes: | N/A |
Location
| Chromosome: | 16 |
|---|---|
| Locus: | NG_000006.1 |
| Locus Location: | 33779 |
| Size: | 1 bp |
| Located at: | α2 |
| Specific Location: | Exon 1 |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | Missense codons (Protein Structure) |
| Ethnic Origin: | Moroccan |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | Yes |
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
- Harteveld CL, Versteegh FG, van Leer EH, Starreveld JS, Kok PJ, van Rooijen-Nijdam I, van Delft P, Zanella-Cleon I, Becchi M, Wajcman H, Giordano PC, Hb St. Jozef, A Val-->Leu N-terminal mutation leading to retention of the methionine, and partial acetylation found in the globin gene in Cis with a -alpha3.7 thalassemia deletion., Hemoglobin , 31(3), 313-23, 2007 PubMed
Created on 2014-01-08 17:27:54,
Last reviewed on 2014-01-09 16:25:24 (Show full history)
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2014-01-08 17:27:54 | The IthaGenes Curation Team | Created |
| 2 | 2014-01-09 16:25:24 | The IthaGenes Curation Team | Reviewed. |
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IthaGenes was last updated on 2024-11-20 13:24:07