Skip to main content
. Author manuscript; available in PMC: 2020 Jan 1.
Published in final edited form as: J Inherit Metab Dis. 2019 Jan;42(1):186–194. doi: 10.1002/jimd.12040

Table 2.

Prokaryotic Expression of HMBS Missense and In-frame Deletion Mutations

Mutation Mean % Expressed WT Activity
WT 100
p.L30P 0.2
p.F77L 0.1
p.A112P 0.1
p.A122D 0.2
p.T145I 0.4
p.L154P 0.1
p.L170P BLD**
p.Q204HΔ3 BLD**
p.V224E 0.9
p.D240G 5
p.A347P 51
c.639_641delTGC* BLD**
*

This mutation leads to an in-frame deletion of a single amino acid

**

BLD: Below the limits of detection