Table II.
Variations in the desmosome genes of the 23 patients with AC.
| Gene | Variation type | Nucleotide change | Amino acid change | PolyPhena | SIFTb |
|---|---|---|---|---|---|
| DSG2 | SNP | c.618T>A | p.Ala206Ala | − | 0.60 |
| DSG2 | Missense | c.2390T>A | p.Leu797Gln | 0.998 (++) | 0.95 |
| DSG2 | Missense | c.593A>G | p.Tyr198Cys | 0.995 | 0.95 |
| DSG2 | SNP | c.161C>T | p.Ala54Val | Benign | 0.55 |
| PKP2 | Missense | c.746G>C | p.Ser249Thr | 0.97 (++) | 1 |
| PKP2 | Frameshift | c.2422delC | p.Glu808fsX30 |
a
PolyPhen prediction: ++, likely damaging; +, possibly damaging; -, benign
b
SIFT prediction: Amino acids with scores >0.95 are predicted to be deleterious. PolyPhen, polymorphism phenotyping; SIFT, sorting intolerant from tolerant; SNP, single nucleotide polymorphism; DSG2, desmoglein 2; PKP2, plakophilin 2.