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

dbSNP

Phenotype

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

IthaPhen

Heterozygous records (preview in IthaPhen)

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

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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