E.COLI EXPRESSION

 

fold.gif (119 bytes) KRAUSLAB MAIN PAGE
images/fold.gif (119 bytes) CBS 
images/fold.gif (119 bytes) PCC
     doc.gif (130 bytes) PCCA mutations
     doc.gif (130 bytes) PCCA map
     doc.gif (130 bytes) PCCB mutations
     doc.gif (130 bytes) PCCB map
     doc.gif (130 bytes) PCC references
     doc.gif (130 bytes) E.coli expression
     doc.gif (130 bytes) Mutation submission
     doc.gif (130 bytes) About PCC
     doc.gif (130 bytes) Other PCC pages
     doc.gif (130 bytes) PCC Protein
images/fold.gif (119 bytes) DIAGNOSTICS 
images/fold.gif (119 bytes) SEARCH


Expres1.jpg (25613 bytes)

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.

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