3.4.24.84	E298A	ability to complement the mating-defective phenotype of ste24-1 is lost	638973	
3.4.24.84	E298D	ability to complement the mating-defective phenotype of ste24-1 is lost	638973	
3.4.24.84	H297A	ability to complement the mating-defective phenotype of ste24-1 is lost	638973	
3.4.24.84	H335A	0.4% of wild-type activity	735044	
3.4.24.84	H335A	the mutant shows 1.5% of wild type activity	753395	
3.4.24.84	H339A	the mutant shows 1.9% of wild type activity	753395	
3.4.24.84	L362F	1.3% of wild-type activity	735044	
3.4.24.84	L362F	the mutation is associated with restrictive dermopathy	719313	
3.4.24.84	L425P	the mutation is associated with mandibuloacral dysplasia type B and reduced prelamin A cleavage ability (41.9% of wild type activity)	753395	
3.4.24.84	L438F	1.0% of wild-type activity	735044	
3.4.24.84	L438F	the mutation is associated with metabolic syndrome and non-alcoholic fatty liver disease and reduced prelamin A cleavage ability (52.7% of wild type activity)	753395	
3.4.24.84	L462R	the mutation is associated with restrictive dermopathy and reduced prelamin A cleavage ability (6.5% of wild type activity)	753395	
3.4.24.84	L647R	prelaminaAct mutant, cannot be cleaved by Zmpste24	667497	
3.4.24.84	L94P	2.8% of wild-type activity	735044	
3.4.24.84	L94P	the mutation severely impairs enzyme activity	755334	
3.4.24.84	L94P	the mutation with is associated with mandibuloacral dysplasia type B and reduced prelamin A cleavage ability (11.3% of wild type activity)	753395	
3.4.24.84	additional information	identification of compound heterozygous frameshifting mutations in exon 1, c.50delA, and exon 5, c.584_585delAT of the ZMPSTE24 gene in two brothers affected with restrictive dermopathy, who died in the neonatal period. Both deletions are frameshifting and are predicted to cause the appearance of premature termination codons	710803	
3.4.24.84	additional information	neonates with restrictive dermopathy have homozygous or compound heterozygous null mutations in the ZMPSTE24 gene	719313	
3.4.24.84	additional information	Zmste24-deficient mice, Zmpste24 deficiency elicits a stress signaling pathway that is evidenced by a marked upregulation of p53 target genes, accompanied by a senescence phenotype at the cellular level and accelerated ageing at the organismal level	670378	
3.4.24.84	N265S	4.3% of wild-type activity	735044	
3.4.24.84	N265S	the mutant shows 26.2% of wild type activity	753395	
3.4.24.84	N265S/L362F	the mutations are associated with Hutchinson-Gilford progeria syndrome and reduced prelamin A cleavage ability	753395	
3.4.24.84	N265S/Y70S	the mutations are associated with mandibuloacral dysplasia type B and reduced prelamin A cleavage ability	753395	
3.4.24.84	P248L	4.6% of wild-type activity	735044	
3.4.24.84	P248L	the mutant shows 20.5% of wild type activity	753395	
3.4.24.84	P248L/Q41X	the mutations are associated with mandibuloacral dysplasia type B and reduced prelamin A cleavage ability	753395	
3.4.24.84	P248L/W450X	the mutations are associated with mandibuloacral dysplasia type B and reduced prelamin A cleavage ability	753395	
3.4.24.84	T159/L209del	no residual activity	735044	
3.4.24.84	W302X	the mutation is associated with restrictive dermopathy	719313	
3.4.24.84	W340R	13.7% of wild-type activity	735044	
3.4.24.84	W340R	the mutant shows 41.7% of wild type activity	753395	
3.4.24.84	W340R/L362F	the mutations are associated with mandibuloacral dysplasia type B and reduced prelamin A cleavage ability	753395	
3.4.24.84	W450X	0.3% of wild-type activity	735044	
3.4.24.84	Y399C	the mutation is associated with mandibuloacral dysplasia type B and reduced prelamin A cleavage ability(25.8% of wild type activity)	753395