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. 2015 Feb 25;2(2):108–132. doi: 10.1016/j.gendis.2015.02.005

Table 1a.

Basal Activity (GOF).

Receptor BW Mutation Size Charge Hydrophicity Ref.
TSHR 1.49 G → S Increased More hydrophilic 19, 152
MC4R 1.49 E → K − → + 153
TSHR LHCGR 2.43 M → T Decreased More hydrophilic 19, 59, 154
19, 60, 155, 156
TSHR 3.43 L → Q Increased More hydrophilic 25, 157
TSHR LHCGR 3.43 L → R Increased More hydrophilic 19, 63
19, 64, 74
TSHR 5.54 V → F Increased 158
TSHR 5.54 V → L Increased 159
LHCGR 5.54 I → L 14, 19
TSHR, FSHR 6.30 D → G Decreased − → neutral 13, 19, 160, 161
15, 19
LHCGR, FSHR 6.30 D → N − → neutral 14, 19
19, 162, 163, 164
TSHR 6.34 A → I Increased 13, 19, 160
TSHR, LHCGR 6.34 A → V Increased 19, 160, 161, 165, 166
19, 167
TSHR 6.34 A → F Increased 62
TSHR, LHCGR 6.37 M → I Decreased 19, 168
19, 169
TSHR, LHCGR 6.38 A → V Increased 170
19, 171
TSHR 6.40 L → F Increased 18, 19, 61
TSHR, MC4R 6.40 L → Q Increased More hydrophilic 18, 19, 61
19, 46, 48, 172, 173
TSHR 6.41 I → M Increased 174
TSHR, LHCGR 6.41 I → L 19, 175
19, 176
TSHR, LHCGR 6.43 T → I Increased More hydrophobic 19, 161, 177, 178, 179
19, 169
TSHR 6.44 D → A Decreased − → neutral 18, 19
TSHR, LHCGR 6.44 D → E Increased 18, 19, 178, 179
19, 180
TSHR, LHCGR 6.44 D → Y Increased − → neutral 18, 19, 161, 178, 179, 181
14, 19, 36
LHCGR 6.44 D → G Decreased − → neutral 19, 182, 183
LHCGR 6.44 D → H − → + 19, 36