2005, NucleaRDB.
Each point mutation is linked to the entry specific to the residue position, Swiss-Prot ID to the list of mutations available for the corresponding protein, and Swiss-Prot AC to the table of cross-references. Citations are linked to the list of point mutations found in the corresponding articles. The putative locations of the point mutations are indicated in the second column and the corresponding general numbering in the third column, when appropriate.
Mutation Location Gl numbering Swiss-Prot ID (AC) Gene name Reference E2A N-term VDR_HUMAN (P11473) VDR,NR1I1 Jurutka PW et al.,2000 E2F N-term PPAS_HUMAN (Q03181) PPARD,NR1C2, PPARB Bruemmer D et al.,2003 I3C N-term ESR2_HUMAN (Q92731) ESR2,ESTRB, NR3A2 Rosen EM et al.,2003 I3C N-term ESR2_HUMAN (Q92731) ESR2,ESTRB, NR3A2 Lee IJ et al.,2004 I3V N-term ESR2_HUMAN (Q92731) ESR2,ESTRB, NR3A2 Zhao C et al.,2004 K5W N-term PRGR_HUMAN (P06401) PGR,NR3C3 Takimoto GS et al.,2003 G6P N-term PPAT_HUMAN (P37231) PPARG,NR1C3 Boustead JN et al.,2003 H6Y N-term ESR1_HUMAN (P03372) ESR1,ESR, NR3A1 Feng J et al.,2001 K7W N-term PRGR_HUMAN (P06401) PGR,NR3C3 Takimoto GS et al.,2003 S10A N-term ESR1_MOUSE (P19785) Esr1,Esr, Estr, Estra, Nr3a1 Razandi M et al.,2003 P12A N-term PPAT_HUMAN (P37231) PPARG,NR1C3 Evans D et al.,2003 P12A N-term PPAT_HUMAN (P37231) PPARG,NR1C3 Schaffler A et al.,2001 P12A N-term PPAT_HUMAN (P37231) PPARG,NR1C3 Witchel SF et al.,2001 P12A N-term PPAT_HUMAN (P37231) PPARG,NR1C3 Ek J et al.,2001 P12A N-term PPAT_HUMAN (P37231) PPARG,NR1C3 Zietz B et al.,2002 P12A N-term PPAT_HUMAN (P37231) PPARG,NR1C3 Tomita S et al.,2002 P12A N-term PPAT_HUMAN (P37231) PPARG,NR1C3 Ardlie KG et al.,2002 P12A N-term PPAT_HUMAN (P37231) PPARG,NR1C3 Lindi VI et al.,2002 P12A N-term PPAT_HUMAN (P37231) PPARG,NR1C3 Simon I et al.,2002 P12A N-term PPAT_HUMAN (P37231) PPARG,NR1C3 Vaccaro O et al.,2002 P12A N-term PPAT_HUMAN (P37231) PPARG,NR1C3 Ahluwalia M et al.,2002 P12A N-term PPAT_HUMAN (P37231) PPARG,NR1C3 Rosmond R et al.,2003 P12A N-term PPAT_HUMAN (P37231) PPARG,NR1C3 Li S et al.,2003 P12A N-term PPAT_HUMAN (P37231) PPARG,NR1C3 Bluher M et al.,2003 P12A N-term PPAT_HUMAN (P37231) PPARG,NR1C3 Gurnell M et al.,2003 P12A N-term PPAT_HUMAN (P37231) PPARG,NR1C3 Yang WS et al.,2003 P12A N-term PPAT_HUMAN (P37231) PPARG,NR1C3 Iwata E et al.,2003 P12A N-term PPAT_HUMAN (P37231) PPARG,NR1C3 Bosse Y et al.,2003 P12A N-term PPAT_HUMAN (P37231) PPARG,NR1C3 Damcott CM et al.,2004 P12A N-term THB1_RAT (P18113) Thrb,C-erba-beta, Nr1a2 Huber BR et al.,2003 P12P N-term PPAT_HUMAN (P37231) PPARG,NR1C3 Lindi VI et al.,2002 A13V N-term ESR1_HUMAN (P03372) ESR1,ESR, NR3A1 Oxelmark E et al.,2003 S16A N-term ANDR_HUMAN (P10275) AR,DHTR, NR3C4 Gioeli D et al.,2002 E18K N-term PXR_HUMAN (O75469) NR1I2,PXR Hustert E et al.,2001 R18A N-term VDR_HUMAN (P11473) VDR,NR1I1 Jurutka PW et al.,2000 F19D N-term HNF4A_HUMAN (P41235) HNF4A,HNF4, NR2A1, TCF14 Eeckhoute J et al.,2001 G21E N-term ANDR_HUMAN (P10275) AR,DHTR, NR3C4 Callewaert L et al.,2003 E22E N-term GCR_HUMAN (P04150) NR3C1,GRL Feng J et al.,2000 P22R N-term PPAR_HUMAN (Q07869) PPARA,NR1C1, PPAR Hara M et al.,2000 R22A N-term VDR_HUMAN (P11473) VDR,NR1I1 Jurutka PW et al.,2000 R22K N-term VDR_HUMAN (P11473) VDR,NR1I1 Jurutka PW et al.,2000 R23K N-term GCR_HUMAN (P04150) NR3C1,GRL Feng J et al.,2000 R23K N-term GCR_HUMAN (P04150) NR3C1,GRL Tsolakidou AF et al.,2003 R23K N-term GCR_HUMAN (P04150) NR3C1,GRL de Lange P et al.,1997 T24A N-term THB2_HUMAN (P37243) THRB,ERBA2, NR1A2, THR1 Hirota K et al.,2003 L26A N-term ANDR_HUMAN (P10275) AR,DHTR, NR3C4 He B et al.,2002 F27A N-term ANDR_HUMAN (P10275) AR,DHTR, NR3C4 He B et al.,2002 M27T N-term GCR_HUMAN (P04150) NR3C1,GRL Yudt MR et al.,2001 P27S N-term PXR_HUMAN (O75469) NR1I2,PXR Hustert E et al.,2001 R28C N-term ESR1_MOUSE (P19785) Esr1,Esr, Estr, Estra, Nr3a1 Stoica GE et al.,2003 S28A N-term THA_CHICK (P04625) THRA,C-ERBA-ALPHA, NR1A1 Tzagarakis-Foster C et al.,1998 F29L N-term GCR_HUMAN (P04150) NR3C1,GRL Feng J et al.,2000 F29L N-term GCR_HUMAN (P04150) NR3C1,GRL Tsolakidou AF et al.,2003 S29A N-term THA_CHICK (P04625) THRA,C-ERBA-ALPHA, NR1A1 Tzagarakis-Foster C et al.,1998 R34X N-term SHP_HUMAN (Q15466) NR0B2,SHP Nishigori H et al.,2001 R34X N-term SHP_HUMAN (Q15466) NR0B2,SHP Nishizawa H et al.,2002 G36R N-term PXR_HUMAN (O75469) NR1I2,PXR Hustert E et al.,2001 S37A N-term Q86WD1_HUMAN (Q86WD1) none Sharma C et al.,2004 P44S N-term ESR2_HUMAN (Q92731) ESR2,ESTRB, NR3A2 Oxelmark E et al.,2003 T47D N-term ESR2_HUMAN (Q92731) ESR2,ESTRB, NR3A2 Rosen EM et al.,2003 Q58L N-term ANDR_HUMAN (P10275) AR,DHTR, NR3C4 Lund A et al.,2003 S59R N-term MCR_HUMAN (P08235) NR3C2,MCR, MLR Govindan MV et al.,1998 T60S N-term MCR_HUMAN (P08235) NR3C2,MCR, MLR Govindan MV et al.,1998 S61A N-term RXRA_MOUSE (P28700) Rxra,Nr2b1 Gianni M et al.,2003 S71R N-term GCR_HUMAN (P04150) NR3C1,GRL Govindan MV et al.,1998 N72S N-term GCR_HUMAN (P04150) NR3C1,GRL Govindan MV et al.,1998 S73A N-term ERR1_HUMAN (P11474) ESRRA,ERR1, ESRL1, NR3B1 Qi X et al.,2004 S77A N-term RRB_MOUSE (P22605) Rarb,Nr1b2 Gianni M et al.,2003 S81A N-term ANDR_HUMAN (P10275) AR,DHTR, NR3C4 Gioeli D et al.,2002 S81A N-term ANDR_HUMAN (P10275) AR,DHTR, NR3C4 Fu M et al.,2004 S81D N-term ANDR_HUMAN (P10275) AR,DHTR, NR3C4 Gioeli D et al.,2002 Y81X N-term DAX1_HUMAN (P51843) NR0B1,AHC, DAX1 Zhang YH et al.,2001 S82A N-term PPAR_MOUSE (P23204) Ppara,Nr1c1, Ppar Sung CK et al.,2004 T82A N-term RXRA_HUMAN (P19793) RXRA,NR2B1 Matsushima-Nishiwaki R et al.,2001 T82D N-term RXRA_HUMAN (P19793) RXRA,NR2B1 Matsushima-Nishiwaki R et al.,2001 T87A N-term RXRA_MOUSE (P28700) Rxra,Nr2b1 Gianni M et al.,2003 K91R N-term NR4A2_RAT (Q07917) Nr4a2,Hzf-3, Nurr1, Rnr1 Galleguillos D et al.,2004 S94A N-term ANDR_HUMAN (P10275) AR,DHTR, NR3C4 Gioeli D et al.,2002 S94A N-term ANDR_HUMAN (P10275) AR,DHTR, NR3C4 Fu M et al.,2004 V95A N-term RXRB_HUMAN (P28702) RXRB,NR2B2 Ishiguro H et al.,2002 S104A N-term ESR1_HUMAN (P03372) ESR1,ESR, NR3A1 Martin MB et al.,2000 S104A N-term ESR1_HUMAN (P03372) ESR1,ESR, NR3A1 Coleman KM et al.,2003 S104A N-term ESR1_HUMAN (P03372) ESR1,ESR, NR3A1 Dutertre M et al.,2003 S106A N-term ESR1_HUMAN (P03372) ESR1,ESR, NR3A1 Martin MB et al.,2000 S106A N-term ESR1_HUMAN (P03372) ESR1,ESR, NR3A1 Dutertre M et al.,2003 L112F N-term GCR_HUMAN (P04150) NR3C1,GRL Feng J et al.,2000 L112F N-term GCR_HUMAN (P04150) NR3C1,GRL Tsolakidou AF et al.,2003 S112A N-term PPAT_HUMAN (P37231) PPARG,NR1C3 Iwata M et al.,2001 S112A N-term PPAT_MOUSE (P37238) Pparg,Nr1c3 Huang WC et al.,2002 S112A N-term PPAT_MOUSE (P37238) Pparg,Nr1c3 Rangwala SM et al.,2003 S118 N-term ESR1_HUMAN (P03372) ESR1,ESR, NR3A1 Chen D et al.,2002 S118 N-term ESR1_HUMAN (P03372) ESR1,ESR, NR3A1 Kato S et al.,1995 S118A N-term ESR1_HUMAN (P03372) ESR1,ESR, NR3A1 Webb P et al.,1999 S118A N-term ESR1_HUMAN (P03372) ESR1,ESR, NR3A1 Martin MB et al.,2000 S118A N-term ESR1_HUMAN (P03372) ESR1,ESR, NR3A1 Lu D et al.,2001 S118A N-term ESR1_HUMAN (P03372) ESR1,ESR, NR3A1 Singleton DW et al.,2003 S118A N-term ESR1_HUMAN (P03372) ESR1,ESR, NR3A1 Dutertre M et al.,2003 S118A N-term ESR1_HUMAN (P03372) ESR1,ESR, NR3A1 Deblois G et al.,2003 S118A N-term ESR1_HUMAN (P03372) ESR1,ESR, NR3A1 El-Tanani MK et al.,1997 S118E N-term ESR1_HUMAN (P03372) ESR1,ESR, NR3A1 Webb P et al.,1999 S118E N-term ESR1_HUMAN (P03372) ESR1,ESR, NR3A1 Dutertre M et al.,2003 S118R N-term ESR1_HUMAN (P03372) ESR1,ESR, NR3A1 Webb P et al.,1999 S119X N-term ANDR_HUMAN (P10275) AR,DHTR, NR3C4 Melo KF et al.,2003 L121A N-term ANDR_HUMAN (P10275) AR,DHTR, NR3C4 Liu Y et al.,2004 S122A N-term ESR1_MOUSE (P19785) Esr1,Esr, Estr, Estra, Nr3a1 Lahooti H et al.,1995 S124A N-term ERR1_HUMAN (P11474) ESRRA,ERR1, ESRL1, NR3B1 Dutertre M et al.,2003 S126A N-term NR4A2_HUMAN (P43354) NR4A2,NOT, NURR1, TINUR Nordzell M et al.,2004 E129K N-term ERR1_HUMAN (P11474) ESRRA,ERR1, ESRL1, NR3B1 Oxelmark E et al.,2003 T132A N-term NR4A2_HUMAN (P43354) NR4A2,NOT, NURR1, TINUR Nordzell M et al.,2004 P134S N-term ESR1_RAT (P06211) Esr1,Esr, Estr, Nr3a1 Luciano RL et al.,2003 P140P N-term ANDR_MOUSE (P19091) Ar,Nr3c4 Han G et al.,2001 W140A N-term PRGR_HUMAN (P06401) PGR,NR3C3 Takimoto GS et al.,2003 P146Q N-term ESR1_HUMAN (P03372) ESR1,ESR, NR3A1 Feng J et al.,2001 P151S N-term ANDR_HUMAN (P10275) AR,DHTR, NR3C4 Nesslinger NJ et al.,2003 D154N N-term ANDR_HUMAN (P10275) AR,DHTR, NR3C4 LaFevre-Bernt MA et al.,2003 I163N N-term ANDR_RAT (P15207) Ar,Nr3c4 Chamberlain NL et al.,1996 S163X N-term MCR_HUMAN (P08235) NR3C2,MCR, MLR Riepe FG et al.,2003 L164N N-term ANDR_RAT (P15207) Ar,Nr3c4 Chamberlain NL et al.,1996 S165A N-term ANDR_RAT (P15207) Ar,Nr3c4 Chamberlain NL et al.,1996 G166S N-term ANDR_HUMAN (P10275) AR,DHTR, NR3C4 Haapala K et al.,2001 S167A N-term ESR1_HUMAN (P03372) ESR1,ESR, NR3A1 Martin MB et al.,2000 S167A N-term ESR1_HUMAN (P03372) ESR1,ESR, NR3A1 Clark DE et al.,2001 S167A N-term ESR1_HUMAN (P03372) ESR1,ESR, NR3A1 Sun M et al.,2001 L172X N-term ANDR_HUMAN (P10275) AR,DHTR, NR3C4 Melo KF et al.,2003 S176S N-term ANDR_HUMAN (P10275) AR,DHTR, NR3C4 Hyytinen ER et al.,2002 I180V N-term MCR_HUMAN (P08235) NR3C2,MCR, MLR Arai K et al.,1999 I180V N-term MCR_HUMAN (P08235) NR3C2,MCR, MLR Arai K et al.,2003 I180V N-term MCR_HUMAN (P08235) NR3C2,MCR, MLR Arai K et al.,1995 I182A N-term ANDR_HUMAN (P10275) AR,DHTR, NR3C4 Alen P et al.,1999 I182A N-term ANDR_HUMAN (P10275) AR,DHTR, NR3C4 Callewaert L et al.,2003 L183A N-term ANDR_HUMAN (P10275) AR,DHTR, NR3C4 Alen P et al.,1999 L183A N-term ANDR_HUMAN (P10275) AR,DHTR, NR3C4 Callewaert L et al.,2003 T190F N-term GCR_HUMAN (P04150) NR3C1,GRL Almlof T et al.,1997 T190P N-term GCR_HUMAN (P04150) NR3C1,GRL Almlof T et al.,1997 T190Y N-term GCR_HUMAN (P04150) NR3C1,GRL Almlof T et al.,1997 F191A N-term GCR_HUMAN (P04150) NR3C1,GRL Ford J et al.,1997 F191I N-term GCR_HUMAN (P04150) NR3C1,GRL Almlof T et al.,1997 F191L N-term GCR_HUMAN (P04150) NR3C1,GRL Almlof T et al.,1997 F191V N-term GCR_HUMAN (P04150) NR3C1,GRL Almlof T et al.,1997 D192A N-term GCR_HUMAN (P04150) NR3C1,GRL Almlof T et al.,1997 D192F N-term GCR_HUMAN (P04150) NR3C1,GRL Almlof T et al.,1997 D192Y N-term GCR_HUMAN (P04150) NR3C1,GRL Almlof T et al.,1997 I193A N-term GCR_HUMAN (P04150) NR3C1,GRL Ford J et al.,1997 I193F N-term GCR_HUMAN (P04150) NR3C1,GRL Almlof T et al.,1997 I193L N-term GCR_HUMAN (P04150) NR3C1,GRL Almlof T et al.,1997 I193V N-term GCR_HUMAN (P04150) NR3C1,GRL Almlof T et al.,1997 L194A N-term GCR_HUMAN (P04150) NR3C1,GRL Wallberg AE et al.,1999 L194A N-term GCR_HUMAN (P04150) NR3C1,GRL Almlof T et al.,1997 L194A N-term GCR_HUMAN (P04150) NR3C1,GRL Ford J et al.,1997 L194V N-term GCR_HUMAN (P04150) NR3C1,GRL Almlof T et al.,1997 Q195E N-term GCR_HUMAN (P04150) NR3C1,GRL Almlof T et al.,1997 D196Y N-term GCR_HUMAN (P04150) NR3C1,GRL Wallberg AE et al.,1999 D196Y N-term GCR_HUMAN (P04150) NR3C1,GRL Almlof T et al.,1997 L197A N-term GCR_HUMAN (P04150) NR3C1,GRL Ford J et al.,1997 L197V N-term GCR_HUMAN (P04150) NR3C1,GRL Almlof T et al.,1997 E198Q N-term GCR_HUMAN (P04150) NR3C1,GRL Almlof T et al.,1997 F199A N-term GCR_HUMAN (P04150) NR3C1,GRL Ford J et al.,1997 F199V N-term GCR_HUMAN (P04150) NR3C1,GRL Almlof T et al.,1997 S200P N-term GCR_HUMAN (P04150) NR3C1,GRL Almlof T et al.,1997 E206K N-term ANDR_MOUSE (P19091) Ar,Nr3c4 Han G et al.,2001 K206E N-term GCR_HUMAN (P04150) NR3C1,GRL Almlof T et al.,1997 R210R N-term ANDR_HUMAN (P10275) AR,DHTR, NR3C4 Yan J et al.,2004 S210A N-term PRGR_CHICK (P07812) PGR,NR3C3 Bai W et al.,1997 E211E N-term ANDR_HUMAN (P10275) AR,DHTR, NR3C4 Yan J et al.,2004 S211R N-term GCR_HUMAN (P04150) NR3C1,GRL Almlof T et al.,1997 P212S N-term GCR_HUMAN (P04150) NR3C1,GRL Almlof T et al.,1997 W213A N-term GCR_HUMAN (P04150) NR3C1,GRL Almlof T et al.,1997 W213F N-term GCR_HUMAN (P04150) NR3C1,GRL Almlof T et al.,1997 W213G N-term GCR_HUMAN (P04150) NR3C1,GRL Almlof T et al.,1997 W213R N-term GCR_HUMAN (P04150) NR3C1,GRL Wallberg AE et al.,1999 W213R N-term GCR_HUMAN (P04150) NR3C1,GRL Almlof T et al.,1997 W213Y N-term GCR_HUMAN (P04150) NR3C1,GRL Almlof T et al.,1997 G214R N-term ANDR_HUMAN (P10275) AR,DHTR, NR3C4 Betney R et al.,2003 D216T N-term GCR_HUMAN (P04150) NR3C1,GRL Almlof T et al.,1997 D216Y N-term GCR_HUMAN (P04150) NR3C1,GRL Almlof T et al.,1997 L218V N-term GCR_HUMAN (P04150) NR3C1,GRL Almlof T et al.,1997 E219K N-term GCR_RAT (P06536) Nr3c1,Grl Rogatsky I et al.,1999 E219K N-term GCR_RAT (P06536) Nr3c1,Grl Keeton EK et al.,2002 E219K N-term GCR_RAT (P06536) Nr3c1,Grl Kucera T et al.,2002 E219K N-term GCR_RAT (P06536) Nr3c1,Grl Rogatsky I et al.,2003 F220L N-term GCR_RAT (P06536) Nr3c1,Grl Rogatsky I et al.,1999 F220L N-term GCR_RAT (P06536) Nr3c1,Grl Keeton EK et al.,2002 F220L N-term GCR_RAT (P06536) Nr3c1,Grl Kucera T et al.,2002 F220L N-term GCR_RAT (P06536) Nr3c1,Grl Rogatsky I et al.,2003 E221F N-term GCR_HUMAN (P04150) NR3C1,GRL Wallberg AE et al.,1999 E221F N-term GCR_HUMAN (P04150) NR3C1,GRL Almlof T et al.,1997 N222D N-term GCR_HUMAN (P04150) NR3C1,GRL Almlof T et al.,1997 N222K N-term ANDR_HUMAN (P10275) AR,DHTR, NR3C4 Betney R et al.,2003 C223G N-term GCR_HUMAN (P04150) NR3C1,GRL Almlof T et al.,1997 C223R N-term GCR_HUMAN (P04150) NR3C1,GRL Almlof T et al.,1997 L224V N-term GCR_HUMAN (P04150) NR3C1,GRL Almlof T et al.,1997 Q224A N-term DAX1_HUMAN (P51843) NR0B1,AHC, DAX1 Lehmann SG et al.,2002 L225F N-term GCR_HUMAN (P04150) NR3C1,GRL Almlof T et al.,1997 L225I N-term GCR_HUMAN (P04150) NR3C1,GRL Almlof T et al.,1997 L225V N-term GCR_HUMAN (P04150) NR3C1,GRL Almlof T et al.,1997 P227S N-term GCR_HUMAN (P04150) NR3C1,GRL Almlof T et al.,1997 L228M N-term GCR_HUMAN (P04150) NR3C1,GRL Almlof T et al.,1997 A229T N-term ANDR_MOUSE (P19091) Ar,Nr3c4 Han G et al.,2001 E231G N-term ANDR_MOUSE (P19091) Ar,Nr3c4 Han G et al.,2001 E231G N-term ANDR_MOUSE (P19091) Ar,Nr3c4 Culig Z et al.,2001 Q231 N-term ODR7_CAEEL (P41933) odr-7,nr0a4,T18D3.2 Sarafi-Reinach TR et al.,2001 D233N N-term GCR_HUMAN (P04150) NR3C1,GRL Feng J et al.,2000 D233N N-term GCR_HUMAN (P04150) NR3C1,GRL Tsolakidou AF et al.,2003 D233Y N-term GCR_HUMAN (P04150) NR3C1,GRL Almlof T et al.,1997 N233K N-term