Results for the protein: NP

Results for the Protein: NP_001191192

324021681

2908

NR3C1

NCBI

glucocorticoid receptor isoform alpha-D2 [Homo sapiens]

Known Diseases associated with this Protein:
  GLUCOCORTICOID RESISTANCE, CELLULAR
  GLUCOCORTICOID RESISTANCE, FAMILIAL
  GLUCOCORTICOID RESISTANCE, GENERALIZED
  PSEUDOHERMAPHRODITISM, FEMALE, WITH HYPOKALEMIA, DUE TO GLUCOCORTICOID
  PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL DOMINANT
  RESISTANCE

13

1

13

1

0

Tips:

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RefSeq Protein: NP_001191192

Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
NR_DBD_VDR	cd06955	1.9e-13	83	189
NR_DBD_PNR	cd06970	2.6e-20	83	173
NR_DBD_DHR4_like	cd07168	5.1e-21	83	163
NR_DBD_GCNF_like	cd07169	2.8e-21	83	172
NR_DBD_ERR	cd07170	1.6e-25	85	181
NR_DBD_TR2_like	cd06967	3.7e-22	86	172
NR_DBD_ER	cd07171	5.2e-31	86	167
NR_DBD_AR	cd07173	2.2e-48	86	167
NR_DBD_GR_PR	cd07172	5.3e-59	87	164
NR_DBD_FXR	cd06962	2.5e-16	88	171
NR_DBD_EcR	cd07161	1.6e-17	88	178
NR_DBD_RXR	cd06956	6.4e-25	89	165
NR_DBD_RAR	cd06964	3.5e-20	89	168
NR_DBD_CAR	cd06966	3.1e-14	89	176
NR_DBD_NGFI-B	cd06969	4.4e-28	89	163
2DBD_NR_DBD1	cd07157	1.9e-12	89	173
NR_DBD_EcR_like	cd06959	6.6e-21	90	162
NR_DBD_TR	cd06961	2.6e-24	90	174
NR_DBD_Ppar	cd06965	1.9e-14	90	167
NR_DBD_PXR	cd07162	5.6e-15	90	176
NR_DBD_TLX	cd07163	7.9e-16	90	175
NR_DBD_REV_ERB	cd07166	4.9e-15	90	173
NR_DBD_like	cd06916	3.9e-41	91	162
NR_DBD_PNR_like_2	cd06957	1.8e-20	91	171
NR_DBD_COUP_TF	cd06958	1.7e-21	91	163
NR_DBD_HNF4A	cd06960	8.5e-29	91	166
NR_DBD_GR_like	cd06963	2.5e-58	91	163
NR_DBD_ROR	cd06968	1.3e-17	91	178
NR_DBD_ER_like	cd07155	1.8e-25	91	165
NR_DBD_VDR_like	cd07156	4.1e-21	91	162
NR_DBD_Ppar_like	cd07158	4e-20	91	162
NR_DBD_PNR_like_1	cd07164	4.3e-24	91	168
NR_DBD_DmE78_like	cd07165	5.9e-19	91	168
NR_DBD_Lrh-1_like	cd07167	2.7e-24	91	183
2DBD_NR_DBD2	cd07179	4.3e-21	91	164
NR_DBD_PNR_like	cd07154	2.2e-22	91	162
NR_LBD_ER	cd06949	6.9e-09	197	430
NR_LBD_Ftz-F1_like	cd06944	0.00053	199	430
NR_LBD_GR_Like	cd06947	5.1e-175	201	445
NR_LBD_AR	cd07073	1e-103	201	445
NR_LBD_PR	cd07074	1.8e-113	201	447
NR_LBD_MR	cd07075	6.3e-99	201	447
NR_LBD_GR	cd07076	6.8e-205	201	447
NR_LBD_RXR_like	cd06943	3.1e-06	202	399
NR_LBD_ERR	cd06946	1.4e-11	202	425
NR_LBD_ER_like	cd07068	4.2e-15	202	425
NR_LBD_HNF4_like	cd06931	8.7e-05	204	422
NR_LBD_F1	cd06929	9.7e-06	224	406
NR_LBD_F2	cd06930	3.9e-58	230	398
NR_LBD	cd06157	2.1e-51	231	398
zf-C4	pfam00105	3.1e-43	89	158
Hormone_recep	pfam00104	8.3e-35	261	426
ZnF_C4	smart00399	1.3e-35	90	159
HOLI	smart00430	6e-33	237	398

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs6195	Polymorphism	p.ASN33SER	N/A
OMIM	138040.0013	Disease	p.ARG146HIS	GLUCOCORTICOID RESISTANCE, GENERALIZED
OMIM	600983.0017	Disease	p.ARG342TER	PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL DOMINANT
OMIM	138040.0001	Disease	p.ASP310VAL	GLUCOCORTICOID RESISTANCE, FAMILIAL
OMIM	600983.0016	Disease	p.CYS106TER	PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL DOMINANT
OMIM	600983.0020	Disease	p.GLU641GLY	PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL DOMINANT
OMIM	138040.0014	Disease	p.GLY348SER	GLUCOCORTICOID RESISTANCE, GENERALIZED
OMIM	138040.0008	Disease	p.ILE228ASN	GLUCOCORTICOID RESISTANCE, GENERALIZED
OMIM	138040.0009	Disease	p.ILE416MET	GLUCOCORTICOID RESISTANCE, FAMILIAL
OMIM	138040.0003	Disease	p.LEU422PHE	GLUCOCORTICOID RESISTANCE, CELLULAR
OMIM	138040.0012	Disease	p.LEU442PRO	GLUCOCORTICOID RESISTANCE, GENERALIZED
OMIM	138040.0015	Disease	p.PHE406LEU	GLUCOCORTICOID RESISTANCE, GENERALIZED
OMIM	600983.0018	Disease	p.SER344TER	PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL DOMINANT
OMIM	138040.0010	Disease	p.VAL240ALA	PSEUDOHERMAPHRODITISM, FEMALE, WITH HYPOKALEMIA, DUE TO GLUCOCORTICOID\|\|RESISTANCE

Please Cite: Peterson, T.A., Adadey, A., Santana-Cruz ,I., Sun, Y., Winder A, Kann, M.G., (2010) DMDM: Domain Mapping of Disease Mutations. Bioinformatics 26 (19), 2458-2459.

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