IthaID: 2303
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Variant of Uncertain Significance |
|---|---|---|---|
| Common Name: | CD 100 CTC>TTC (Leu>Phe) | HGVS Name: | HBA1:c.301C>T |
| Hb Name: | Hb Weesp | Protein Info: | α1 100 Leu>Phe |
Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKFLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR
Also known as:
Comments: The substitution of the hydrophobic amino acid leucine by the bulkier phenylalanine on the α1-globin chain of Hb Weesp does not result in major changes in expression or functionality. No clinical consequences.
We follow the HGVS sequence variant nomenclature and IUPAC standards.
External Links
Phenotype
| Hemoglobinopathy Group: | Structural Haemoglobinopathy |
|---|---|
| Hemoglobinopathy Subgroup: | α-chain variant |
| Allele Phenotype: | Silent Hb |
| Stability: | N/A |
| Oxygen Affinity: | N/A |
| Associated Phenotypes: | N/A |
Location
| Chromosome: | 16 |
|---|---|
| Locus: | NG_000006.1 |
| Locus Location: | 38146 |
| Size: | 1 bp |
| Located at: | α1 |
| Specific Location: | Exon 3 |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | Missense codons (Protein Structure) |
| Ethnic Origin: | Netherlands |
| 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
- van Zwieten R, Veldthuis M, Delzenne B, Berghuis J, Groen J, Ait Ichou F, Clifford E, Harteveld CL, Stroobants AK, Hemoglobin Analyses in The Netherlands Reveal More Than 80 Different Variants Including Six Novel Ones., Hemoglobin , 2013 PubMed
- Bots M, Stroobants AK, Delzenne B, Soeters MR, de Vries JE, Weykamp CW, Norg RJ, Veldthuis M, Zwieten Rv, Two novel haemoglobin variants that affect haemoglobin A1c measurement by ion-exchange chromatography., Clin. Chem. Lab. Med. , 53(9), 1465-71, 2015 PubMed
Created on 2014-01-08 16:37:44,
Last reviewed on 2016-08-25 14:52:12 (Show full history)
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2014-01-08 16:37:44 | The IthaGenes Curation Team | Created |
| 2 | 2014-01-08 17:01:27 | The IthaGenes Curation Team | Reviewed. |
| 3 | 2016-08-23 15:03:22 | The IthaGenes Curation Team | Reviewed. Update of mutation comment section. HbVar ID added. |
| 4 | 2016-08-23 15:05:01 | The IthaGenes Curation Team | Reviewed. Ethnic origin added. |
| 5 | 2016-08-24 15:20:04 | The IthaGenes Curation Team | Reviewed. |
| 6 | 2016-08-25 14:52:12 | The IthaGenes Curation Team | Reviewed. Reference added. |
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IthaGenes was last updated on 2024-04-12 12:35:12