IthaID: 3143

Names and Sequences

Functionality: Disease modifying mutation Pathogenicity: N/A
Common Name: rs4644 HGVS Name: NG_017089.1:g.14001C>A

Context nucleotide sequence:

Protein sequence:

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


Allele Phenotype (Cis):N/A
Allele Phenotype (Trans):N/A
Associated Phenotypes: Recurrent respiratory infections [HP:002205]


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

Sequence Viewer

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Publications / Origin

  1. 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)

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