IthaID: 3144
Names and Sequences
| Functionality: | Disease modifying mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | rs4652 | HGVS Name: | NG_017089.1:g.14102A>C |
Context nucleotide sequence:
CCCATCTTCTGGACAGCCAAGTGCC [A/C] CCGGAGCCTACCCTGCCACTGGCCC (Strand: +)
Protein sequence:
MADNFSLHDALSGSGNPNPQGWPGAWGNQPAGAGGYPGASYPGAYPGQAPPGAYPGQAPPGAYPGAPGAYPGAPAPGVYPGPPSGPGAYPSSGQPSAPGAYPATGPYGAPAGPLIVPYNLPLPGGVVPRMLITILGTVKPNANRIALDFQRGNDVAFHFNPRFNENNRRVIVCNTKLDNNWGREERQSVFPFESGKPFKIQVLVEPDHFKVAVNDAHLLQYNHRVKKLNEISKLGISGDIDLTSASYTMI
Also known as: +292 ACT>CCT [Thr>Pro]
Comments: SNP associated with frequent respiratory tract infection and vaso-occlusive crisis in children with sickle cell anaemia attended in Hemope Foundation—Recife/Brazil.
We follow the HGVS sequence variant nomenclature and IUPAC standards.
External Links
Phenotype
| Allele Phenotype (Cis): | N/A |
|---|---|
| Allele Phenotype (Trans): | N/A |
| Associated Phenotypes: |
Vaso-occlusive crisis Recurrent respiratory infections [HP:002205] |
Location
| Chromosome: | 14 |
|---|---|
| Locus: | NG_017089.1 |
| Locus Location: | 14102 |
| Size: | 1 bp |
| Located at: | LGALS3 |
| Specific Location: | Exon 3 |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | Missense codons (Protein Structure) |
| Ethnic Origin: | Brazilian |
| Molecular mechanism: | N/A |
| Inheritance: | Quantitative trait |
| 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
- Mendonça Belmont TF, do Ó KP, Soares da Silva A, de Melo Vilar K, Silva Medeiros F, Silva Vasconcelos LR, Mendonça Dos Anjos AC, Domingues Hatzlhofer BL, Pitta MG, Bezerra MA, Araújo Ada S, de Melo Rego MJ, Moura P, Cavalcanti Mdo S, Single Nucleotide Polymorphisms at +191 and +292 of Galectin-3 Gene (LGALS3) Related to Lower GAL-3 Serum Levels Are Associated with Frequent Respiratory Tract Infection and Vaso-Occlusive Crisis in Children with Sickle Cell Anemia., PLoS ONE , 11(9), e0162297, 2016 PubMed
Created on 2017-01-17 14:13:57,
Last reviewed on 2019-07-03 14:45:29 (Show full history)
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2017-01-17 14:13:57 | The IthaGenes Curation Team | Created |
| 2 | 2017-01-17 14:21:06 | The IthaGenes Curation Team | Reviewed. Mutation comment and clinical phenotype sections updated. |
| 3 | 2017-03-13 10:04:28 | The IthaGenes Curation Team | Reviewed. Synonym added. |
| 4 | 2019-07-03 14:45:29 | The IthaGenes Curation Team | Reviewed. Phenotype added. |
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IthaGenes was last updated on 2024-11-20 13:24:07