Table 1.
The list of SNPs within coding regions of the human MRGPRX2 locus.
| SNP ID | Mutation | Nucleotide variation | MAF | Amino acid change | MRGPRX2 domain | Response to ligands gained/lost/not changed | |
|---|---|---|---|---|---|---|---|
| 1. | rs10833049 | Missense | T > G | C = 0.3185 | Asn62Thr | CPD1 | n.d. |
| T > C | Asn62Ser | ||||||
| 2. | rs11024970 | Missense | T > G | G = 0.1130 | Asn16His | ECD1 | Not changed (HK1, SP, IC, hBD3) (58) |
| 3. | rs11823569 | Missense | C > T | T = 0.0066 | Val43lle | TMD1 | Not changed (HK1, SP, IC, hBD3) (58) |
| 4. | rs564668393 | Missense | A > G | G = 0.0066 | Ser284Pro | CPD4 | n.d. |
| 5. | rs79763999 | Missense | A > G | G = 0.0032 | Phe78Leu | TMD2 | Not changed (HK1, SP, IC, hBD3) (58) |
| 6. | rs60756581 | Missense | G > A | A = 0.0022 | Arg140Cys | CPD2 | n.d. |
| G > C | Arg140Gly | ||||||
| 7. | rs114017828 | Missense | T > A | C = 0.0022 | Met324Leu | CPD4 | n.d. |
| T > C | Met324Va | ||||||
| 8. | rs145992601 | Missense | G > C | C = 0.0020 | Leu31Val | TMD1 | Not changed (HK1, SP, IC, hBD3) (58) |
| 9. | rs117328742 | Missense | A > C | C = 0.0016 | Ser313Arg | CPD4 | n.d. |
| 10. | rs150365137 | Missense | A > G | G = 0.0014 | Trp243Arg | TMD6 | lost (HK1, SP, IC, hBD3) (58) |
| 11. | rs75443524 | Missense | T > A | C = 0.0010 | Arg61Trp | CPD1 | n.d. |
| T > C | Arg61Gly | ||||||
| 12. | rs572320540 | Missense | C > A | A = 0.0010 | Ala74Ser | TMD2 | n.d. |
| C > T | Ala74Thr | ||||||
| 13. | rs118176470 | Missense | A > G | G = 0.0006 | Val108Ala | TMD3 | n.d. |
| 14. | rs140862085 | Missense | G > A | A = 0.0004 | His259Tyr | ECD4 | Lost (HK1, SP, IC, hBD3) (58) |
| 15. | rs542994968 | Nonsense | C > T | T = 0.0004 | Trp190Ter | TMD5 | n.d. |
| 16. | rs572101439 | Missense | T > C | C = 0.0002 | Thr224Ala | TMD6 | n.d. |
| 17. | rs564709381 | Missense | G > T | T = 0.0002 | Pro6Thr | ECD1 | n.d. |
| 18. | rs550191582 | Missense | T > C | C = 0.0002 | Ser103Gly | TMD3 | n.d. |
| 19. | rs543158275 | Missense | C > G | G = 0.0002 | Val51Leu | TMD1 | n.d. |
| 20. | rs531328060 | Missense | C > T | T = 0.0002 | Met196lle | TMD5 | n.d. |
| 21. | rs530355228 | Missense | G > C | C = 0.0002 | Pro322Ala | CPD4 | n.d. |
| 22. | rs372986472 | Missense | C > A | A = 0.0002 | Asp252Tyr | ECD4 | n.d. |
| 23. | rs201846837 | Missense | C > G | G = 0.0002 | Met119lle | TMD3 | n.d. |
| 24. | rs201177657 | Missense | G > A | A = 0.0002 | Pro142Leu | CPD2 | n.d. |
| 25. | rs181882698 | Missense | C > T | T = 0.0002 | Asp75Asn | TMD2 | n.d. |
| 26. | rs141141857 | Missense | G > A | C = 0.0002 | Pro238Ser | TMD6 | n.d. |
| G > C | Pro238Ala | ||||||
| 27. | rs111606529 | Missense | G > A | A = 0.0002 | Arg290Trp | CPD4 | n.d. |
| 28. | rs528014472 | Nonsense | C > A | A = 0.0002 | Gly9Ter | ECD1 | n.d. |
| 29. | rs141744602* | Missense | C > T | T = 0.000008 | Gly165Glu | ECD3 | Lost (HK1, SP, IC, hBD3) (58) |
| 30. | rs372988289* | Missense | C > G | G = 0.000008 | Asp184His | TMD5 | Lost (HK1, SP, IC, hBD3) (58) |
SNPs were extracted from NCBI dbSNP database (http://ncbi.nlm.nih.gov/SNP/) or Exome Aggregation Consortium (http://exac.broadinstitute.org/). SNPs validated by at least 1,000 Genomes Project are shown except SNPs marked with
*
. The localization of MRGPRX2 domains is based on work published by Reddy et al. (53). ECD, extracellular domain; CPD, cytoplasmic domain; TMD, transmembrane domain; n.d., not determined; SP, substance P; hBD3, human β-defensin-3; HK1, hemokinin-1; IC, icatibant.