How does a particular mutation in an enzyme cause disease?

Biochemistry
9th Edition
ISBN:9781319114671
Author:Lubert Stryer, Jeremy M. Berg, John L. Tymoczko, Gregory J. Gatto Jr.
Publisher:Lubert Stryer, Jeremy M. Berg, John L. Tymoczko, Gregory J. Gatto Jr.
Chapter1: Biochemistry: An Evolving Science
Section: Chapter Questions
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4

How does a particular mutation in an
enzyme cause disease?
What is wrong with each mutant?
His6-HSFH
Vmax
kcat
Km
kcat/ Km
(umol min mg*)
(s *)
(mM)
(Mª s')
Wild-type
26.7 ± 0.9
23.5 + 0.8
1.09 + 0.16
2.16 x 104
29.7 ± 1.2
0.0230 + 0.0017
2.54 + 0.35
0.94 + 0.31
D65G
26.2 + 1.1
1.03 х 10°
E432Kfs*17
0.0156 + 0.0013
16.6
Transcribed Image Text:How does a particular mutation in an enzyme cause disease? What is wrong with each mutant? His6-HSFH Vmax kcat Km kcat/ Km (umol min mg*) (s *) (mM) (Mª s') Wild-type 26.7 ± 0.9 23.5 + 0.8 1.09 + 0.16 2.16 x 104 29.7 ± 1.2 0.0230 + 0.0017 2.54 + 0.35 0.94 + 0.31 D65G 26.2 + 1.1 1.03 х 10° E432Kfs*17 0.0156 + 0.0013 16.6
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