IthaID: 2940



Names and Sequences

Functionality: Disease modifying mutation Pathogenicity: N/A
Common Name: rs2280789 HGVS Name: NG_015990.1:g.5375T>C

Context nucleotide sequence:
ATCTCCTGATCAGTTTTTCTGTCTT [C/T] AAGGTCTACACCCTCAAGGCCTACA (Strand: -)

Also known as: g.In1.+1T>C

Comments: The g.In1.1C variant associated with lower risk of bacterial infection recurrence in children with sickle cell disease (SCD) in Benin and in France (n=115) [PMID: 19425063]. The association was not replicated in an SCD cohort from Tunisia [PMID: 23900864].

External Links

Phenotype

Allele Phenotype (Cis):Decreased expression for CCL5
Allele Phenotype (Trans):N/A
Associated Phenotypes: Recurrent infections [HP:0002719]

Location

Chromosome: 17
Locus: NG_015990.1
Locus Location: 5375
Size: 1 bp
Located at: CCL5
Specific Location: Intron 1

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: N/A
Ethnic Origin: Beninese, French
Molecular mechanism: N/A
Inheritance: Quantitative trait
DNA Sequence Determined: Yes

Sequence Viewer

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Publications / Origin

  1. Dossou-Yovo OP, Zaccaria I, Benkerrou M, Hauchecorne M, Alberti C, Rahimy MC, Elion J, Lapoumeroulie C, Effects of RANTES and MBL2 gene polymorphisms in sickle cell disease clinical outcomes: association of the g.In1.1T>C RANTES variant with protection against infections., Am. J. Hematol. , 84(6), 378-80, 2009 PubMed
  2. Kalai M, Chaouch L, Mansour IB, Hafsia R, Ghanem A, Abbes S, Frequency of three polymorphisms of the CCL5 gene (rs2107538, rs2280788 and rs2280789) and their implications for the phenotypic expression of sickle cell anemia in Tunisia., Pol J Pathol , 64(2), 84-9, 2013 PubMed
Created on 2016-08-09 11:07:12, Last reviewed on 2019-07-03 22:19:50 (Show full history)

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