Table 2 Predictions of PiTou on furin cleavage sites to elucidate the molecular mechanisms of furin cleavage-associated human diseases.
Protein | Furin cleavage site motif | PiTou prediction score | Genetic mutation | Resulting amino acid mutation | Position of resulting amino acid mutation on furin cleavage site motif | Mutated furin cleavage site motif | PiTou prediction score of mutated furin cleavage site motif | Cellular consequence | Associated Human Disease |
|---|---|---|---|---|---|---|---|---|---|
Ectodysplasin-A isoform II | EKPYSEEESRRVRR↓NKRSKS | 15.9 (cleaved by furin) | C704->T | R155->C | P2: R->C | EKPYSEEESRRVCR↓ NKRSKS | −9.8 | Loss of furin cleavage site | |
|  |  |  | C707->T | R156->C | P1: R->C | EKPYSEEESRRVCC↓ NKRSKS | Loss of P1 arginine | Loss of furin cleavage site |  |
|  |  |  | G708->A | R156->H | P1: R->H | EKPYSEEESRRVCH↓ NKRSKS | Loss of P1 arginine | Loss of furin cleavage site |  |
|  | YSEEESRRVRRNKR↓SKSNEG | 17.0 (cleaved by furin) | C704->T | R155->C | P5: R->C | YSEEESRRVCRNKR↓ SKSNEG | −8.3 | Loss of furin cleavage site |  |
|  |  |  | C707->T | R156->C | P4: R->C | YSEEESRRVRCNKR↓SKSNEG | −10.3 | Loss of furin cleavage site |  |
|  |  |  | G708->A | R156->H | P4: R->H | YSEEESRRVRHNKR↓SKSNEG | 9.3 | Reduced furin cleavage efficiency |  |
Desmoglein 2 | KLLPKHPHLVRQKR↓ AWITAP | 10.6 (cleaved by furin) | G143->A | R48->H | P1: R->H | KLLPKHPHLVRQKH↓ AWITAP | Loss of P1 arginine | Loss of furin cleavage site | Arrhythmogenic right ventricular dysplasia/cardiomyopathy disorder23 |
|  |  |  | G134->A | R45->Q | P4: R->Q | KLLPKHPHLVQQKR↓ AWITAP | −14.6 | Loss of furin cleavage site |  |
Fibrinogen alpha chain precursor | GDFLAEGGGVRGPR↓ VVERHQ | −14.6 (not cleaved by furin) | T1215->A | V39->D | P1: V->D | GDFLAEGGGVRGPR↓ DVERHQ | 8.1 | Gain of unwanted furin cleavage site | The mutated fibrinogen alpha chain was cleaved by furin. Prolonged thrombin time and a mild bleeding tendency24. |
