Table 1. List of PH1-associated mutations tested.
Mutation | Allele | Prior Activity Analysis | Prior Stability Analysis |
Group I | |||
L25R | ? | ||
G109V | Mi | ||
R111Q | ? | ||
G161R | Ma | ma[5], [18] | mi[16]/ma[18] |
M195R | Mi | ||
D201E | Ma | ||
L269P | Ma | ||
L284P | Mi | ||
L298P | Mi | ||
L359P | Ma | ||
L384P | Ma | ||
Group II | |||
I56N | Ma Mi | ||
E95K | Mi | mi[11] | |
G161C | Mi | mi[18], [19], [24]/ma[24] | mi[18], [19] |
G161S | Mi | mi[18], [19], [24]/ma[24] | mi[18], [19] |
L166P | Mi | mi/ma[24] | |
M195L | Mi | ||
D243H | ? | ||
C253R | Mi | mi/ma[16], [24] | |
P319L | ? | mi[9]/ma[19] | mi[9]/ma[19] |
A368T | Mi | mi[9] | mi[9] |
Group III | |||
D129H | Ma | ||
L153V | Ma | ||
I279M | ? | ||
Q282R | Ma | ||
S287T | ? | ||
Group IV | |||
R36C | Mi | mi[16], [24]/ma[24] | mi[16] |
G47R | Mi | mi[16] | mi[16] |
G82R | Mi | mi[16] | mi[16] |
H83R | Mi | mi[9], [11], [16] | mi[9], [16] |
W108R | Mi | mi[4],[16],[19] | mi[16], [19] |
H261Q | ? | mi[16] | mi[16] |
E274D | Mi | mi[16] | mi[16] |
S275R | Ma Mi | mi[16] | mi[16] |