Summary of desmosomal mutations—pathogenic and unclassified variants
| Athlete | Gene (exon) | Nucleotide change | Coding effect | Comments |
| Mutations | ||||
| 1 | PKP2(7) | c.1648_1657del CTCGATTTTG | p.Leu550ThrfsX10, frameshift and truncated protein | Novel |
| 46 | PKP2(9–11) | Large deletion | Truncated protein | Novel |
| 9&28 | PKP2(11) | c.2146–1G>C | Abnormal splicing | Previously described8 |
| 39 | PKP2(3) | c.505A>G | p.Ser169Gly, altered phosphorylation site | Novel, UV |
| 15 | JUP(3) | c.427G>A | p.Ala143Thr, conservative mutation, highly conserved | Novel, UV |
| Uncommon polymorphisms | ||||
| 13 | PKP2(1) | c.76G>A | p.Asp26Asn, conservative mutation, moderately conserved | Previously described10, UV |
| 30 | DSP(23) | c.3863A>G | p.Lys1288Arg, conservative mutation, moderately conserved | Novel, UV |
| 44 | DSP(20) | c.2863G>A | p.Ala955Thr, conservative mutation, moderately conserved | Novel, UV |
| 35 | PKP2(5) | c.1378G>A | p.Asp460Asn, conservative mutation, poorly conserved | Novel, UV |
UV, unclassified variant.