IthaID: 3143
Names and Sequences
Functionality: | Disease modifying mutation | Pathogenicity: | N/A |
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Common Name: | rs4644 | HGVS Name: | NG_017089.1:g.14001C>A |
Context nucleotide sequence:
GGACAGGCACCTCCAGGCGCCTACC [A/C] TGGAGCACCTGGAGCTTATCCCGGA (Strand: +)
Protein sequence:
MADNFSLHDALSGSGNPNPQGWPGAWGNQPAGAGGYPGASYPGAYPGQAPPGAYPGQAPPGAYHGAPGAYPGAPAPGVYPGPPSGPGAYPSSGQPSATGAYPATGPYGAPAGPLIVPYNLPLPGGVVPRMLITILGTVKPNANRIALDFQRGNDVAFHFNPRFNENNRRVIVCNTKLDNNWGREERQSVFPFESGKPFKIQVLVEPDHFKVAVNDAHLLQYNHRVKKLNEISKLGISGDIDLTSASYTMI
Also known as: +191 (CCT>CAT) [Pro>His]
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 |
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Allele Phenotype (Trans): | N/A |
Associated Phenotypes: | Recurrent respiratory infections [HP:002205] |
Location
Chromosome: | 14 |
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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) |
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Effect on Gene/Protein Function: | Missense codons (Protein Structure) |
Ethnic Origin: | Brazilian |
Molecular mechanism: | N/A |
Inheritance: | Quantitative trait |
DNA Sequence Determined: | Yes |
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 14:06:48,
Last reviewed on 2019-07-03 14:44:54 (Show full history)
A/A | Date | Curator(s) | Comments |
---|---|---|---|
1 | 2017-01-17 14:06:48 | The IthaGenes Curation Team | Created |
2 | 2017-01-17 14:10:15 | The IthaGenes Curation Team | Reviewed. Mutation comment updated. |
3 | 2017-01-17 14:22:50 | The IthaGenes Curation Team | Reviewed. Mutation comment section updated. |
4 | 2017-03-13 09:56:34 | The IthaGenes Curation Team | Reviewed. Synonym added. |
5 | 2017-03-13 10:10:06 | The IthaGenes Curation Team | Reviewed. Synonym name updated. |
6 | 2019-07-03 14:44:54 | The IthaGenes Curation Team | Reviewed. Phenotype added. |
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IthaGenes was last updated on 2022-05-18 09:45:18