Results for the protein: NP

Results for the Protein: NP_001191189

324021675

2908

NR3C1

NCBI

glucocorticoid receptor isoform alpha-C2 [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_001191189

Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
NR_DBD_VDR	cd06955	1.9e-13	324	430
NR_DBD_PNR	cd06970	2.6e-20	324	414
NR_DBD_DHR4_like	cd07168	5.1e-21	324	404
NR_DBD_GCNF_like	cd07169	2.8e-21	324	413
NR_DBD_ERR	cd07170	1.6e-25	326	422
NR_DBD_TR2_like	cd06967	3.7e-22	327	413
NR_DBD_ER	cd07171	5.2e-31	327	408
NR_DBD_AR	cd07173	2.2e-48	327	408
NR_DBD_GR_PR	cd07172	5.3e-59	328	405
NR_DBD_FXR	cd06962	2.5e-16	329	412
NR_DBD_EcR	cd07161	1.6e-17	329	419
NR_DBD_RXR	cd06956	6.4e-25	330	406
NR_DBD_RAR	cd06964	3.5e-20	330	409
NR_DBD_CAR	cd06966	3.1e-14	330	417
NR_DBD_NGFI-B	cd06969	4.4e-28	330	404
2DBD_NR_DBD1	cd07157	1.9e-12	330	414
NR_DBD_EcR_like	cd06959	6.6e-21	331	403
NR_DBD_TR	cd06961	2.6e-24	331	415
NR_DBD_Ppar	cd06965	1.9e-14	331	408
NR_DBD_PXR	cd07162	5.6e-15	331	417
NR_DBD_TLX	cd07163	7.9e-16	331	416
NR_DBD_REV_ERB	cd07166	4.9e-15	331	414
NR_DBD_like	cd06916	3.9e-41	332	403
NR_DBD_PNR_like_2	cd06957	1.8e-20	332	412
NR_DBD_COUP_TF	cd06958	1.7e-21	332	404
NR_DBD_HNF4A	cd06960	8.5e-29	332	407
NR_DBD_GR_like	cd06963	2.5e-58	332	404
NR_DBD_ROR	cd06968	1.3e-17	332	419
NR_DBD_PNR_like	cd07154	2.2e-22	332	403
NR_DBD_ER_like	cd07155	1.8e-25	332	406
NR_DBD_VDR_like	cd07156	4.1e-21	332	403
NR_DBD_Ppar_like	cd07158	4e-20	332	403
NR_DBD_PNR_like_1	cd07164	4.3e-24	332	409
NR_DBD_DmE78_like	cd07165	5.9e-19	332	409
NR_DBD_Lrh-1_like	cd07167	2.7e-24	332	424
2DBD_NR_DBD2	cd07179	4.3e-21	332	405
NR_LBD_ER	cd06949	6.9e-09	438	671
NR_LBD_Ftz-F1_like	cd06944	0.00053	440	671
NR_LBD_GR_Like	cd06947	5.1e-175	442	686
NR_LBD_AR	cd07073	1e-103	442	686
NR_LBD_PR	cd07074	1.8e-113	442	688
NR_LBD_MR	cd07075	6.3e-99	442	688
NR_LBD_GR	cd07076	6.8e-205	442	688
NR_LBD_RXR_like	cd06943	3.1e-06	443	640
NR_LBD_ERR	cd06946	1.4e-11	443	666
NR_LBD_ER_like	cd07068	4.2e-15	443	666
NR_LBD_HNF4_like	cd06931	8.7e-05	445	663
NR_LBD_F1	cd06929	9.7e-06	465	647
NR_LBD_F2	cd06930	3.9e-58	471	639
NR_LBD	cd06157	2.1e-51	472	639
GCR	pfam02155	2e-200	1	312
zf-C4	pfam00105	3.1e-43	330	399
Hormone_recep	pfam00104	8.3e-35	502	667
ZnF_C4	smart00399	1.3e-35	331	400
HOLI	smart00430	6e-33	478	639

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs6195	Polymorphism	p.ASN274SER	N/A
OMIM	138040.0013	Disease	p.ARG387HIS	GLUCOCORTICOID RESISTANCE, GENERALIZED
OMIM	600983.0017	Disease	p.ARG583TER	PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL DOMINANT
OMIM	138040.0001	Disease	p.ASP551VAL	GLUCOCORTICOID RESISTANCE, FAMILIAL
OMIM	600983.0016	Disease	p.CYS347TER	PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL DOMINANT
OMIM	600983.0020	Disease	p.GLU882GLY	PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL DOMINANT
OMIM	138040.0014	Disease	p.GLY589SER	GLUCOCORTICOID RESISTANCE, GENERALIZED
OMIM	138040.0008	Disease	p.ILE469ASN	GLUCOCORTICOID RESISTANCE, GENERALIZED
OMIM	138040.0009	Disease	p.ILE657MET	GLUCOCORTICOID RESISTANCE, FAMILIAL
OMIM	138040.0003	Disease	p.LEU663PHE	GLUCOCORTICOID RESISTANCE, CELLULAR
OMIM	138040.0012	Disease	p.LEU683PRO	GLUCOCORTICOID RESISTANCE, GENERALIZED
OMIM	138040.0015	Disease	p.PHE647LEU	GLUCOCORTICOID RESISTANCE, GENERALIZED
OMIM	600983.0019	Disease	p.SER92LEU	PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL DOMINANT
OMIM	600983.0018	Disease	p.SER585TER	PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL DOMINANT
OMIM	138040.0010	Disease	p.VAL481ALA	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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