Results for the protein: NP

Results for the Protein: NP_001191188

324021673

2908

NR3C1

NCBI

glucocorticoid receptor isoform alpha-C1 [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

14

1

14

1

0

Tips:

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RefSeq Protein: NP_001191188

Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
NR_DBD_VDR	cd06955	1.9e-13	328	434
NR_DBD_PNR	cd06970	2.6e-20	328	418
NR_DBD_DHR4_like	cd07168	5.1e-21	328	408
NR_DBD_GCNF_like	cd07169	2.8e-21	328	417
NR_DBD_ERR	cd07170	1.6e-25	330	426
NR_DBD_TR2_like	cd06967	3.7e-22	331	417
NR_DBD_ER	cd07171	5.2e-31	331	412
NR_DBD_AR	cd07173	2.2e-48	331	412
NR_DBD_GR_PR	cd07172	5.3e-59	332	409
NR_DBD_FXR	cd06962	2.5e-16	333	416
NR_DBD_EcR	cd07161	1.6e-17	333	423
NR_DBD_RXR	cd06956	6.4e-25	334	410
NR_DBD_RAR	cd06964	3.5e-20	334	413
NR_DBD_CAR	cd06966	3.1e-14	334	421
NR_DBD_NGFI-B	cd06969	4.4e-28	334	408
2DBD_NR_DBD1	cd07157	1.9e-12	334	418
NR_DBD_TR	cd06961	2.6e-24	335	419
NR_DBD_Ppar	cd06965	1.9e-14	335	412
NR_DBD_EcR_like	cd06959	6.6e-21	335	407
NR_DBD_PXR	cd07162	5.6e-15	335	421
NR_DBD_TLX	cd07163	7.9e-16	335	420
NR_DBD_REV_ERB	cd07166	4.9e-15	335	418
NR_DBD_like	cd06916	3.9e-41	336	407
NR_DBD_PNR_like_2	cd06957	1.8e-20	336	416
NR_DBD_COUP_TF	cd06958	1.7e-21	336	408
NR_DBD_HNF4A	cd06960	8.5e-29	336	411
NR_DBD_GR_like	cd06963	2.5e-58	336	408
NR_DBD_ROR	cd06968	1.3e-17	336	423
NR_DBD_PNR_like	cd07154	2.2e-22	336	407
NR_DBD_ER_like	cd07155	1.8e-25	336	410
NR_DBD_Ppar_like	cd07158	4e-20	336	407
NR_DBD_DmE78_like	cd07165	5.9e-19	336	413
NR_DBD_Lrh-1_like	cd07167	2.7e-24	336	428
2DBD_NR_DBD2	cd07179	4.3e-21	336	409
NR_DBD_PNR_like_1	cd07164	4.3e-24	336	413
NR_DBD_VDR_like	cd07156	4.1e-21	336	407
NR_LBD_ER	cd06949	6.9e-09	442	675
NR_LBD_Ftz-F1_like	cd06944	0.00053	444	675
NR_LBD_GR_Like	cd06947	5.1e-175	446	690
NR_LBD_AR	cd07073	1e-103	446	690
NR_LBD_PR	cd07074	1.8e-113	446	692
NR_LBD_GR	cd07076	6.8e-205	446	692
NR_LBD_MR	cd07075	6.3e-99	446	692
NR_LBD_RXR_like	cd06943	3.1e-06	447	644
NR_LBD_ERR	cd06946	1.4e-11	447	670
NR_LBD_ER_like	cd07068	4.2e-15	447	670
NR_LBD_HNF4_like	cd06931	8.7e-05	449	667
NR_LBD_F1	cd06929	9.7e-06	469	651
NR_LBD_F2	cd06930	3.9e-58	475	643
NR_LBD	cd06157	2.1e-51	476	643
GCR	pfam02155	2.3e-206	1	316
zf-C4	pfam00105	3.1e-43	334	403
Hormone_recep	pfam00104	8.3e-35	506	671
ZnF_C4	smart00399	1.3e-35	335	404
HOLI	smart00430	6e-33	482	643

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs6195	Polymorphism	p.ASN278SER	N/A
OMIM	138040.0013	Disease	p.ARG391HIS	GLUCOCORTICOID RESISTANCE, GENERALIZED
OMIM	600983.0017	Disease	p.ARG587TER	PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL DOMINANT
OMIM	138040.0001	Disease	p.ASP555VAL	GLUCOCORTICOID RESISTANCE, FAMILIAL
OMIM	600983.0016	Disease	p.CYS351TER	PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL DOMINANT
OMIM	600983.0020	Disease	p.GLU886GLY	PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL DOMINANT
OMIM	138040.0014	Disease	p.GLY593SER	GLUCOCORTICOID RESISTANCE, GENERALIZED
OMIM	138040.0008	Disease	p.ILE473ASN	GLUCOCORTICOID RESISTANCE, GENERALIZED
OMIM	138040.0009	Disease	p.ILE661MET	GLUCOCORTICOID RESISTANCE, FAMILIAL
OMIM	138040.0003	Disease	p.LEU667PHE	GLUCOCORTICOID RESISTANCE, CELLULAR
OMIM	138040.0012	Disease	p.LEU687PRO	GLUCOCORTICOID RESISTANCE, GENERALIZED
OMIM	138040.0015	Disease	p.PHE651LEU	GLUCOCORTICOID RESISTANCE, GENERALIZED
OMIM	600983.0019	Disease	p.SER96LEU	PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL DOMINANT
OMIM	600983.0018	Disease	p.SER589TER	PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL DOMINANT
OMIM	138040.0010	Disease	p.VAL485ALA	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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