3.4.21.41	C309W	the mutation is associated with periodontal Ehlers-Danlos syndrome	752432	
3.4.21.41	C338R	the mutation is associated with periodontal Ehlers-Danlos syndrome	752432	
3.4.21.41	C358F	the mutation is associated with periodontal Ehlers-Danlos syndrome	752432	
3.4.21.41	C371W	the mutation is associated with periodontal Ehlers-Danlos syndrome	752432	
3.4.21.41	D290G	the mutation is associated with periodontal Ehlers-Danlos syndrome	752432	
3.4.21.41	G297D	the mutation is associated with periodontal Ehlers-Danlos syndrome	752432	
3.4.21.41	I306-C309del	the deletion mutations are associated with periodontal Ehlers-Danlos syndrome	752432	
3.4.21.41	L300P	the mutation is associated with periodontal Ehlers-Danlos syndrome	752432	
3.4.21.41	additional information	by the point mutation of C1r - Arg-Phe - of the natural cleavage site Arg-Ile - the zymogen is stabilized, while the biological activity is not affected	81401	
3.4.21.41	R301P	the mutation is associated with periodontal Ehlers-Danlos syndrome	752432	
3.4.21.41	R401-Y405del	the deletion mutations are associated with periodontal Ehlers-Danlos syndrome	752432	
3.4.21.41	R446Q	stabilized in the single-chain proenzyme form by mutation at the cleavage site, no esterolytic activity with acetyl-Gly-Lys-methyl ester	652176	
3.4.21.41	R463X	construction of a stable zymogen by mutating the Arg463Ile bond shows that one active C1r in the C1 complex is sufficient for the full activity of the entire complex	81391	
3.4.21.41	R463X	the mutants of the proenzyme Arg463Lys,Ile464Phe have increased stability, they retain their ability to autoactivate and have wild-type like hemolytic activity	81405	
3.4.21.41	R463X	the mutations Arg463Gln, Arg463Lys or Arg463Phe all stabilize the zymogen state	81392	
3.4.21.41	S637A	stabilized in the single-chain proenzyme form by mutation at the active site serine residue, no esterolytic activity with acetyl-Gly-Lys-methyl ester	652176	
3.4.21.41	S654A	mutant without autoactivation	652680	
3.4.21.41	V50D	the mutation is associated with periodontal Ehlers-Danlos syndrome	752432	
3.4.21.41	W364C	the mutation is associated with periodontal Ehlers-Danlos syndrome	752432	
3.4.21.41	W435R	the mutation is associated with periodontal Ehlers-Danlos syndrome	752432	
3.4.21.41	Y302C	the mutation is associated with periodontal Ehlers-Danlos syndrome	752432