TRPA1 allele group # | SNP (Rs ID) | Major (control) allelea | Minor allele | MAF in ALSPACb | MAF in 1000Gc | Amino acid position (number and domain) with amino acid change relative to reference | Functional evidence |
---|---|---|---|---|---|---|---|
1 | rs7819749 | G | T* | 0.40 | 0.39 | K186N (ANK4) | K186 (resulting from the minor allele in ALSPAC), has increased response to CFA relative to N186, with similar responses to other agonists [19] |
2 | rs920829 | C* | T | 0.10 | 0.13 | E179K (ANK4) | Patients with paradoxical heat sensations show a lower frequency of being either hetero- or homozygous for the minor allele [20] E179, shows cold evoked calcium flux whereas K179 does not [21] K179 has reduced response to CFA relative to E179 [19].# Individuals hetero- and homo-zygous for the minor allele have increased odds of asthma [15] Patients with the minor allele have more presentations to healthcare with sickle cell pain [22] |
rs959976 | T* | C | 0.16 | 0.20 | H1018R (cytoplasmic) | The presence of the minor allele increases the odds of doctor diagnosed asthma [15] R1018 had increased response to coal fly ash relative to H1018 [19].# | |
3 | rs16937976 | C* | G | 0.15 | 0.17 | R58T (cytoplasmic) | C3 and T58 separately, but not when co-expressed, have increased response to CFA, AITC and DTBP relative to R58/R3 [19].# |
rs13268757 | G* | A | 0.15 | 0.17 | R3C (cytoplasmic) |