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. Author manuscript; available in PMC: 2009 Nov 1.
Published in final edited form as: Pharmacol Ther. 2008 Aug 9;120(2):129–148. doi: 10.1016/j.pharmthera.2008.07.005

Table 1.

Naturally occurring constitutively active mutations in TSHR

Mutation Location (Ballesteros numbering when applicable) References
S281I Extracellular domain (Kopp et al., 1997b)
S281N Extracellular domain (Biebermann et al., 2000; Duprez et al., 1997b)
S281T Extracellular domain (Duprez et al., 1997b)
S425I TM1 (1.43) (Trulzsch et al., 2001)
G431S TM1 (1.49) (Biebermann et al., 2001)
M453T TM2 (2.43) (de Roux et al., 1996; Duprez et al., 1997a)
M463V TM2 (2.53) (Fuhrer et al., 2000)
A485V IL1 (Akcurin et al., 2008)
I486F IL1 (Camacho et al., 2000; Parma et al., 1995)
I486M IL1 (Parma et al., 1995)
S505N TM3 (3.36) (Holzapfel et al., 1997)
S505R TM3 (3.36) (Tonacchera et al., 1996),
V509A TM3 (3.40) (Duprez et al., 1994)
L512E TM3 (3.43) (Trulzsch et al., 2001)
L512Q TM3 (3.43) (Nishihara et al., 2006)
L512R TM3 (3.43) (Kosugi et al., 2000; Trulzsch et al., 2001)
I568T EL2 (Parma et al., 1995, 1997; Tonacchera et al., 2000)
V597F TM5 (5.54) (Alberti et al., 2001)
V597L TM5 (5.54) (Esapa et al., 1999)
Y601N TM5 (5.58) (Arseven et al., 2000)
Δ613–621 IL3 (Wonerow et al., 1998)
D617Y IL3 (Nishihara et al., 2007)
D619G TM6 (6.30) (Nogueira et al., 1999; Parma et al., 1993, 1997; Russoet al., 1996)
A623I TM6 (6.34) (Parma et al., 1993)
A623S TM6 (6.34) (Russo et al., 1995)
A623V TM6 (6.34) (Nogueira et al., 1999; Paschke et al., 1994; Schwab etal., 1997)
M626I TM6 (6.37) (Ringkananont et al., 2006)
L629F TM6 (6.40) (Parma et al., 1997)
I630L TM6 (6.41) (Parma et al., 1997)
F631C TM6 (6.42) (Porcellini et al., 1994)
F631I TM6 (6.42) (Fuhrer et al., 2003b)
F631L TM6 (6.42) (Kopp et al., 1995; Parma et al., 1997)
T632A TM6 (6.43) (Spambalg et al., 1996)
T632I TM6 (6.42) (Kopp et al., 1997a; Parma et al., 1997; Paschke et al., 1994; Porcellini et al., 1994)
D633A TM6 (6.44) (Parma et al., 1997)
D633E TM6 (6.44) (Parma et al., 1997; Porcellini et al., 1994)
D633H TM6 (6.44) (Parma et al., 1997; Russo et al., 1996, 1997)
D633Y TM6 (6.44) (Fuhrer et al., 2003b; Nogueira et al., 1999; Parma et al.,1997; Porcellini et al., 1994)
P639S TM6 (6.50) (Khoo et al., 1999; Tonacchera et al., 1998)
N650Y EL3 (Tonacchera et al., 1996)
V656F EL3 (Fuhrer et al., 1997)
Δ658–661 TM7 (Parma et al., 1997)
F666L TM7 (7.41) (Tassi et al., 1999)
N670S TM7 (7.45) (Tonacchera et al., 1996)
C672Y TM7 (7.47) (Duprez et al., 1994)
L677V TM7 (7.52) (Russo et al., 1999)
I691F C terminal tail (Liu et al., 2008)