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	X-linked hypohydrotic ectodermal dysplasia21,22
			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.