IthaID: 3143
Names and Sequences
| Functionality: | Disease modifying mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | rs4644 | HGVS Name: | NG_017089.1:g.14001C>A |
We follow the
HGVS sequence variant nomenclature
and
IUPAC standards.
Context nucleotide sequence:
GGACAGGCACCTCCAGGCGCCTACC [A/C] TGGAGCACCTGGAGCTTATCCCGGA (Strand: +)
Protein sequence:
MADNFSLHDALSGSGNPNPQGWPGAWGNQPAGAGGYPGASYPGAYPGQAPPGAYPGQAPPGAYHGAPGAYPGAPAPGVYPGPPSGPGAYPSSGQPSATGAYPATGPYGAPAGPLIVPYNLPLPGGVVPRMLITILGTVKPNANRIALDFQRGNDVAFHFNPRFNENNRRVIVCNTKLDNNWGREERQSVFPFESGKPFKIQVLVEPDHFKVAVNDAHLLQYNHRVKKLNEISKLGISGDIDLTSASYTMI
Comments: SNP associated with frequent respiratory tract infections in children with sickle cell anaemia attended in Hemope Foundation—Recife/Brazil.
External Links
Phenotype
| Allele Phenotype (Cis): | N/A |
|---|---|
| Allele Phenotype (Trans): | N/A |
| Associated Phenotypes: | Recurrent respiratory infections [HP:002205] |
Location
| Chromosome: | 14 |
|---|---|
| Locus: | NG_017089.1 |
| Locus Location: | 14001 |
| 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
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
Created on 2017-01-17 14:06:48,
Last reviewed on 2019-07-03 14:44:54 (Show full history)
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