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. 2016 Dec 1;7:299. doi: 10.3389/fphar.2016.00299

Table 3.

CYSLTR2 receptor variants: naturally occurring polymorphisms and in vitro engineered mutants.

Nucleotide position Type SNP access code Disease association Reference
g.-1220A/C
c.-819 T > G
c.2078 C > T
c.2534A > G
c.3105 A/G (Exon1-UTR)
c.-2534A > G
c.601 A/G
Promotor
Haplotype


Haplotype

Coding




rs1323552
rs912278
rs41347648
Associated with asthma
Aspirin intolerant asthma
Stronger association with LTC4S c.-444A > C
Not associated with atopic dermatitis
Not associated

201Ser is associated with atopic asthma
201Ser is a hypomorphic variant; decreased Ca2+ flux
Common allele associated with protection against atopy
Associated with atopy; Hypomorphic
201Ser is hypomorphic
Decreased LTD4 binding
Decreased inositol phosphate production
Fukai et al., 2004
Park et al., 2005
Kato et al., 2011

Kumar et al., 2012

Thompson et al., 2003

Thompson et al., 2006
Pillai et al., 2004
Brochu-Bourque et al., 2011

aa, amino acid; IC, intracellular loop; SNP, single nucleotide polymorphism; TM, transmebrane helix. Approximate allele frequency as reported by the Exome Aggregation Consortium (ExAC), Cambridge, MA, USA (http://exac.broadinstitute.org).