E.COLI EXPRESSION

Mutation in PCCB gene Exon/Intron	Effect on coding region	Expression in E. coli		Reference
		Residual PCC activity (% of mean WT)	b - subunit by Western blot
Ex 1	R44P	0	+	Chloupkova et al. 2002
Ex 3	S106R	0	+	Chloupkova et al. 2002
Ex 4	G131R	0	+	Chloupkova et al. 2002
Ex 5	R165W	106	+/-	Chloupkova et al. 2002
Ex 5	E168K	106	+/-	Chloupkova et al. 2002
Ex 5	D178H	120	-	Chloupkova et al. 2002
Ex 6	G198D	0	+/-	Chloupkova et al. 2002
Ex 6	V205D	0	+/-	Chloupkova et al. 2002
Ex 7	P228L	78	+/-	Chloupkova et al. 2002
Ex 12	Del I408	0	+	Chloupkova et al. 2002
Ex 12	R410W	92	+	Chloupkova et al. 2002
Ex 12	T428I	0.1a	+/-	Kelson et al. 1996
Ex 13	M442T	0	+	Chloupkova et al. 2002
Ex 14	A497V	213	+	Chloupkova et al. 2002
Ex 14	R499X	0	-	Chloupkova et al. 2000
Ex 15	R512C	3.9	+/-	Chloupkova et al. 2000
Ex 15	R514X	0	-	Chloupkova et al. 2000
Ex 15	513ins P	0	-	Ravn et al. 2000 Chloupkova et al. 2000
Ex 15	L519P	ND	-	Chloupkova et al. 2000
Ex 15	W531X	10	+	Chloupkova et al. 2000
Ex 15	N536D	ND	-	Chloupkova et al. 2000

 

+, normal; +/-, partially deficient; -, severely deficient. ND, not determined

PCC activity assay was performed with enzymes purified by either size-exclusion or affinity chromatography. Activities were adjusted to the amount of the b PCC subunit.

^a PCC activity assay was performed with crude E. coli extracts and activities were calculated per mg protein.