IthaID: 715
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Benign / Likely Benign |
|---|---|---|---|
| Common Name: | CD 114 CCC>CTC [Pro>Leu] | HGVS Name: | NM_000558.3(HBA1):c.344C>T |
| Hb Name: | Hb Nouakchott | Protein Info: | α1 114(GH2) Pro>Leu |
Context nucleotide sequence:
CTGGTGACCCTGGCCGCCCACCTCC [C/T] CGCCGAGTTCACCCCTGCGGTGCAC (Strand: +)
Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLLAEFTPAVHASLDKFLASVSTVLTSKYR
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: | 38189 |
| 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: | African, Dutch |
| 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
- Wajcman H, Delaunay J, Francina A, Rosa J, Galacteros F, Hemoglobin Nouakchott [alpha 114(GH2)Pro----Leu]: a new hemoglobin variant displaying an unusual increase in hydrophobicity., Biochim. Biophys. Acta , 998(1), 25-31, 1989 PubMed
- Pondman KM, Brinkman JW, van der Straaten HM, Stroobants AK, Harteveld CL, Hb Nouakchott [α114(GH2)Pro→Leu; HBA1: c.344C>T], A Second and Third Case Described in Two Unrelated Dutch Families., Hemoglobin, 42(1), 51-53, 2018 PubMed
Created on 2010-06-16 16:13:16,
Last reviewed on 2024-04-12 10:44:39 (Show full history)
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2010-06-16 16:13:16 | The IthaGenes Curation Team | Created |
| 2 | 2013-10-15 17:00:14 | The IthaGenes Curation Team | Reviewed. |
| 3 | 2014-04-14 17:16:36 | The IthaGenes Curation Team | Reviewed. Added common name, reference and ClinVar link. |
| 4 | 2021-04-07 12:28:49 | The IthaGenes Curation Team | Reviewed. HGVS, protein name and Locus location corrected. Reference and Origin added. |
| 5 | 2024-04-12 10:44:39 | The IthaGenes Curation Team | Reviewed. HGVS name and Links corrected. |
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IthaGenes was last updated on 2024-11-20 13:24:07