Table 1 List of the PADI6 pathogenic variants and prediction of their effect on the protein structure and function
Position | Alleles | Variant ID | Allele frequency | AA | Molecular effect | Conservation in orthologous proteins | Prediction | Genotype | Family | |||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
SIFT | Polyphen-2 | SDM (ΔΔG) | Accessible surface area | |||||||||
chr1 17718714 | G > A | – | Trp356Ter | Nonsense | – | – | – | – | Comp het | 1 | ||
chr1 17727743 | C > G | rs755260464a | 0.000004012 | Pro632Ala | Missense | Yes | Deleterious | Possibly damaging | Stabilizing (0.600 kcal/mol) | Å2 = 0.61 | ||
chr1:17721538 | A > G | rs761556429b | 0.000004008 | Met477Val | Missense | Yes | Tolerated | Benign | Destabilizing (− 0.400 kcal/mol) | Å2 = 3.2 | Comp het | 2 |
chr1:17727929 | C > T | rs1368496637c | 0.000008 | Pro694Ser | Missense | Yes | Deleterious | Possibly damaging | Neutral (0.000 kcal/mol) | Å2 = 61.7 | ||
chr1:17727854-17727856 | Del C | – | Thr669Lys | fs*85 | – | – | – | – | Het | 3 | ||