Results for the protein: NP

Results for the Protein: NP_001191187

324021671

2908

NR3C1

NCBI

glucocorticoid receptor isoform alpha-B [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_001191187

Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
NR_DBD_VDR	cd06955	1.9e-13	387	493
NR_DBD_PNR	cd06970	2.6e-20	387	477
NR_DBD_DHR4_like	cd07168	5.1e-21	387	467
NR_DBD_GCNF_like	cd07169	2.8e-21	387	476
NR_DBD_ERR	cd07170	1.6e-25	389	485
NR_DBD_TR2_like	cd06967	3.7e-22	390	476
NR_DBD_AR	cd07173	2.2e-48	390	471
NR_DBD_ER	cd07171	5.2e-31	390	471
NR_DBD_GR_PR	cd07172	5.3e-59	391	468
NR_DBD_FXR	cd06962	2.5e-16	392	475
NR_DBD_EcR	cd07161	1.6e-17	392	482
NR_DBD_RAR	cd06964	3.5e-20	393	472
NR_DBD_CAR	cd06966	3.1e-14	393	480
NR_DBD_NGFI-B	cd06969	4.4e-28	393	467
NR_DBD_RXR	cd06956	6.4e-25	393	469
2DBD_NR_DBD1	cd07157	1.9e-12	393	477
NR_DBD_EcR_like	cd06959	6.6e-21	394	466
NR_DBD_TR	cd06961	2.6e-24	394	478
NR_DBD_Ppar	cd06965	1.9e-14	394	471
NR_DBD_PXR	cd07162	5.6e-15	394	480
NR_DBD_TLX	cd07163	7.9e-16	394	479
NR_DBD_REV_ERB	cd07166	4.9e-15	394	477
NR_DBD_like	cd06916	3.9e-41	395	466
NR_DBD_PNR_like_2	cd06957	1.8e-20	395	475
NR_DBD_COUP_TF	cd06958	1.7e-21	395	467
NR_DBD_HNF4A	cd06960	8.5e-29	395	470
NR_DBD_GR_like	cd06963	2.5e-58	395	467
NR_DBD_ROR	cd06968	1.3e-17	395	482
NR_DBD_PNR_like	cd07154	2.2e-22	395	466
NR_DBD_ER_like	cd07155	1.8e-25	395	469
NR_DBD_VDR_like	cd07156	4.1e-21	395	466
NR_DBD_Ppar_like	cd07158	4e-20	395	466
NR_DBD_PNR_like_1	cd07164	4.3e-24	395	472
NR_DBD_DmE78_like	cd07165	5.9e-19	395	472
NR_DBD_Lrh-1_like	cd07167	2.7e-24	395	487
2DBD_NR_DBD2	cd07179	4.3e-21	395	468
NR_LBD_ER	cd06949	6.9e-09	501	734
NR_LBD_Ftz-F1_like	cd06944	0.00053	503	734
NR_LBD_GR_Like	cd06947	5.1e-175	505	749
NR_LBD_AR	cd07073	1e-103	505	749
NR_LBD_PR	cd07074	1.8e-113	505	751
NR_LBD_GR	cd07076	6.8e-205	505	751
NR_LBD_MR	cd07075	6.3e-99	505	751
NR_LBD_RXR_like	cd06943	3.1e-06	506	703
NR_LBD_ERR	cd06946	1.4e-11	506	729
NR_LBD_ER_like	cd07068	4.2e-15	506	729
NR_LBD_HNF4_like	cd06931	8.7e-05	508	726
NR_LBD_F1	cd06929	9.7e-06	528	710
NR_LBD_F2	cd06930	3.9e-58	534	702
NR_LBD	cd06157	2.1e-51	535	702
GCR	pfam02155	5.2e-270	1	375
zf-C4	pfam00105	3.1e-43	393	462
Hormone_recep	pfam00104	8.3e-35	565	730
ZnF_C4	smart00399	1.3e-35	394	463
HOLI	smart00430	6e-33	541	702

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs6195	Polymorphism	p.ASN337SER	N/A
OMIM	138040.0013	Disease	p.ARG450HIS	GLUCOCORTICOID RESISTANCE, GENERALIZED
OMIM	600983.0017	Disease	p.ARG646TER	PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL DOMINANT
OMIM	138040.0001	Disease	p.ASP614VAL	GLUCOCORTICOID RESISTANCE, FAMILIAL
OMIM	600983.0016	Disease	p.CYS410TER	PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL DOMINANT
OMIM	600983.0020	Disease	p.GLU945GLY	PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL DOMINANT
OMIM	138040.0014	Disease	p.GLY652SER	GLUCOCORTICOID RESISTANCE, GENERALIZED
OMIM	138040.0008	Disease	p.ILE532ASN	GLUCOCORTICOID RESISTANCE, GENERALIZED
OMIM	138040.0009	Disease	p.ILE720MET	GLUCOCORTICOID RESISTANCE, FAMILIAL
OMIM	138040.0003	Disease	p.LEU726PHE	GLUCOCORTICOID RESISTANCE, CELLULAR
OMIM	138040.0012	Disease	p.LEU746PRO	GLUCOCORTICOID RESISTANCE, GENERALIZED
OMIM	138040.0015	Disease	p.PHE710LEU	GLUCOCORTICOID RESISTANCE, GENERALIZED
OMIM	600983.0019	Disease	p.SER155LEU	PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL DOMINANT
OMIM	600983.0018	Disease	p.SER648TER	PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL DOMINANT
OMIM	138040.0010	Disease	p.VAL544ALA	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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