NucleaRDB: Point mutations extracted from the literature

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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.


Data available for 76 proteins (2213 point mutations from 542 articles)

Swiss-Prot ID  (AC)      Gene name                          Protein subfamily                   # Point mutations
ANDR_HUMAN    (P10275)   AR,DHTR, NR3C4                     3C4 Androgen (AR)                            445
ANDR_MOUSE    (P19091)   Ar,Nr3c4                           3C4 Androgen (AR)                            20
ANDR_RAT      (P15207)   Ar,Nr3c4                           3C4 Androgen (AR)                            25
DAX1_HUMAN    (P51843)   NR0B1,AHC, DAX1                    0B1 DAX                                      41
DAX1_MOUSE    (Q61066)   Nr0b1,Ahch, Dax1                   0B1 DAX                                      4
EAR2_HUMAN    (P10588)   NR2F6,EAR2, ERBAL2                 2F6 V-erbA related protein (EAR2)            2
ECR_DROME     (P34021)   EcR,NR1H1,CG1765                   1H1 Ecdysone                                 18
ERR1_HUMAN    (P11474)   ESRRA,ERR1, ESRL1, NR3B1           3B1 ERR alpha                                5
ERR1_MOUSE    (O08580)   Esrra,Err1, Estrra, Nr3b1          3B1 ERR alpha                                3
ERR3_HUMAN    (P62508)   ESRRG,ERR3, ERRG2, KIAA0832, NR3B3 3B3 ERR gamma                                6
ESR1_HUMAN    (P03372)   ESR1,ESR, NR3A1                    3A1 ER alpha                                 243
ESR1_MOUSE    (P19785)   Esr1,Esr, Estr, Estra, Nr3a1       3A1 ER alpha                                 105
ESR1_PIG      (Q29040)   ESR1,ESR, NR3A1                    3A1 ER alpha                                 2
ESR1_RAT      (P06211)   Esr1,Esr, Estr, Nr3a1              3A1 ER alpha                                 2
ESR2_HUMAN    (Q92731)   ESR2,ESTRB, NR3A2                  3A2 ER beta                                  14
GCR_HUMAN     (P04150)   NR3C1,GRL                          3C1 Glucocorticoid (GR)                      180
GCR_MOUSE     (P06537)   Nr3c1,Grl, Grl1                    3C1 Glucocorticoid (GR)                      17
GCR_RAT       (P06536)   Nr3c1,Grl                          3C1 Glucocorticoid (GR)                      80
HNF4A_HUMAN   (P41235)   HNF4A,HNF4, NR2A1, TCF14           2A1 HNF4 alpha                               22
HNF4A_RAT     (P22449)   Hnf4a,Hnf-4, Hnf4, Nr2a1, Tcf14    2A1 HNF4 alpha                               9
MCR_HUMAN     (P08235)   NR3C2,MCR, MLR                     3C2 Mineralocorticoid (MR)                   44
MCR_RAT       (P22199)   Nr3c2,Mlr                          3C2 Mineralocorticoid (MR)                   5
NR1H3_HUMAN   (Q13133)   NR1H3,LXRA                         1H3 Oxysterol LXR alpha                      16
NR1H4_HUMAN   (Q96RI1)   NR1H4,BAR, FXR, HRR1, RIP14        1H4 Farnesoid FXR                            1
NR1H4_MOUSE   (Q60641)   Nr1h4,Bar, Fxr, Rip14              1H4 Farnesoid FXR                            2
NR1I3_HUMAN   (Q14994)   NR1I3,CAR                          1I3 Constitutive Androstane alpha (CAR1)     17
NR1I3_MOUSE   (O35627)   Nr1i3,Car                          1I3 Constitutive Androstane alpha (CAR1)     32
NR2E3_HUMAN   (Q9Y5X4)   NR2E3,PNR, RNR                     2E3 Photoreceptor-specific (PNR)             20
NR4A2_HUMAN   (P43354)   NR4A2,NOT, NURR1, TINUR            4A2 NURR1                                    3
NR4A2_MOUSE   (Q06219)   Nr4a2,Nurr1                        4A2 NURR1                                    9
NR4A2_RAT     (Q07917)   Nr4a2,Hzf-3, Nurr1, Rnr1           4A2 NURR1                                    2
NR5A2_MOUSE   (P45448)   Nr5a2,Lrh1                         5A2 Fetoprotein TF (LRH-1,FTF)               1
NR6A1_MOUSE   (Q64249)   Nr6a1,Gcnf                         6A1 GCNF1                                    19
O77255_CHOFU  (O77255)   none                               1H1 Ecdysone                                 17
ODR7_CAEEL    (P41933)   odr-7,nr0a4,T18D3.2                0A Knirps like (KNI,KNRL,EGON,ODR7) (no LBD) 1
PPAR_HUMAN    (Q07869)   PPARA,NR1C1, PPAR                  1C1 PPAR alpha                               14
PPAR_MOUSE    (P23204)   Ppara,Nr1c1, Ppar                  1C1 PPAR alpha                               3
PPAS_HUMAN    (Q03181)   PPARD,NR1C2, PPARB                 1C2 PPAR beta                                4
PPAS_MOUSE    (P35396)   Ppard,Nr1c2, Pparb                 1C2 PPAR beta                                6
PPAT_BOVIN    (O18971)   PPARG,NR1C3                        1C3 PPAR gamma                               2
PPAT_HUMAN    (P37231)   PPARG,NR1C3                        1C3 PPAR gamma                               78
PPAT_MOUSE    (P37238)   Pparg,Nr1c3                        1C3 PPAR gamma                               4
PRGR_CHICK    (P07812)   PGR,NR3C3                          3C3 Progesterone (PR)                        5
PRGR_HUMAN    (P06401)   PGR,NR3C3                          3C3 Progesterone (PR)                        20
PXR_HUMAN     (O75469)   NR1I2,PXR                          1I2 Pregnane X (PXR)                         12
PXR_MOUSE     (O54915)   Nr1i2,Pxr                          1I2 Pregnane X (PXR)                         1
PXR_RAT       (Q9R1A7)   Nr1i2,Pxr                          1I2 Pregnane X (PXR)                         4
Q86WD1_HUMAN  (Q86WD1)   none                               1C3 PPAR gamma                               1
Q9XZD4_CAEEL  (Q9XZD4)   daf-12,F11A1.3, F11A1.3a           Nematode receptors                           11
RORA_HUMAN    (P35398)   RORA,NR1F1, RZRA                   1F1 ROR alpha                                15
RORG_HUMAN    (P51449)   RORC,NR1F3, RORG, RZRG             1F3 ROR gamma                                1
RRA_HUMAN     (P10276)   RARA,NR1B1                         1B1 Retinoic acid alpha                      2
RRA_MOUSE     (P11416)   Rara,Nr1b1                         1B1 Retinoic acid alpha                      1
RRB_MOUSE     (P22605)   Rarb,Nr1b2                         1B2 Retinoic acid beta                       2
RRG1_HUMAN    (P13631)   RARG,NR1B3                         1B3 Retinoic acid gamma                      5
RRG2_MOUSE    (P20787)   Rarg,Nr1b3                         1B3 Retinoic acid gamma                      1
RXRA_HUMAN    (P19793)   RXRA,NR2B1                         2B1 RXR alpha                                88
RXRA_MOUSE    (P28700)   Rxra,Nr2b1                         2B1 RXR alpha                                32
RXRB_HUMAN    (P28702)   RXRB,NR2B2                         2B2 RXR beta                                 3
RXRB_MOUSE    (P28704)   Rxrb,Nr2b2                         2B2 RXR beta                                 3
RXRG_MOUSE    (P28705)   Rxrg,Nr2b3                         2B3 RXR gamma                                2
SHP_HUMAN     (Q15466)   NR0B2,SHP                          0B2 SHP                                      12
STF1_BOVIN    (Q04752)   NR5A1,AD4BP, FTZF1                 5A1 Steroidogenic factor-1 (SF1)             4
STF1_HUMAN    (Q13285)   NR5A1,AD4BP, FTZF1, SF1            5A1 Steroidogenic factor-1 (SF1)             15
STF1_MOUSE    (P33242)   Nr5a1,Ftzf1                        5A1 Steroidogenic factor-1 (SF1)             4
THA_CHICK     (P04625)   THRA,C-ERBA-ALPHA, NR1A1           1A1 Thyroid hormone alpha                    13
THA_HUMAN     (P10827)   THRA,ERBA1, NR1A1, THRA1           1A1 Thyroid hormone alpha                    2
THA_RAT       (P63059)   Thra,C-erba-alpha, Nr1a1           1A1 Thyroid hormone alpha                    12
THB1_HUMAN    (P10828)   THRB,ERBA2, NR1A2, THR1            1A2 Thyroid hormone beta                     254
THB1_MOUSE    (P37242)   Thrb,C-erba-beta, Nr1a2            1A2 Thyroid hormone beta                     7
THB1_RAT      (P18113)   Thrb,C-erba-beta, Nr1a2            1A2 Thyroid hormone beta                     2
THB2_HUMAN    (P37243)   THRB,ERBA2, NR1A2, THR1            1A2 Thyroid hormone beta                     3
THB2_MOUSE    (P37244)   Thrb,C-erba-beta, Nr1a2            1A2 Thyroid hormone beta                     2
USP_DROME     (P20153)   usp,Cf1, NR2B4,CG4380              2B4 USP                                      5
VDR_HUMAN     (P11473)   VDR,NR1I1                          1I1 Vitamin D3 (VDR)                         120
VDR_MOUSE     (P48281)   Vdr,Nr1i1                          1I1 Vitamin D3 (VDR)                         6

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F.Horn (nucleardbcmbi.ru.nl), 17-Aug-2005