Table 2.
CYSLTR1 receptor variants: naturally occurring polymorphisms and in vitro engineered mutants.
| Variant, SNP or access code) | Type | SNP access code | Disease association | Reference |
|---|---|---|---|---|
| c.-945T/C c.-786C/A c.-647G/A |
Promotor Promotor Promotor |
rs321029 rs2637204 rs2806489 |
Associated with IgE /atopy Aspirin intolerant asthma (AIA) associated Not associated with IgE; Associated with atopy in females |
Kim et al., 2007 Zhang et al., 2006 Duroudier et al., 2009 Kim et al., 2006 |
| TCG (above) c.-566C/T c. 927T/C |
Haplotype Promotor synonymous Various haploblock |
rs7066737 rs320995 |
Upregulating haplotype not associated Not associated Not associated Associated with asthma Not associated with atopic asthma Atopy severity in females Not associated |
Zhang et al., 2006 Duroudier et al., 2009 Choi et al., 2004 Sanz et al., 2006 Kadry et al., 2014 Arriba-Mendez et al., 2006 Hao et al., 2006 Al-Shemari et al., 2008 |
| c.898 G/A | C-terminus | 300Ser is a hypermorphic variant; Increased Ca2+ flux |
Thompson et al., 2007 | |
| Normal expression and desensitization Increased LTD4 binding; Increased Inositol Phosphate |
Yaddaden et al., 2016 |
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).