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.

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

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 14:13:57, Last reviewed on 2019-07-03 14:45:29 (Show full history)

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