Results for the protein: NP

Results for the Protein: NP_001019265

66528677

2908

NR3C1

NCBI

glucocorticoid receptor isoform gamma [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

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RefSeq Protein: NP_001019265

Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
NR_DBD_VDR	cd06955	9e-13	413	520
NR_DBD_PNR	cd06970	1e-19	413	504
NR_DBD_DHR4_like	cd07168	1.6e-19	413	494
NR_DBD_GCNF_like	cd07169	2.3e-19	413	503
NR_DBD_ERR	cd07170	2.6e-23	415	512
NR_DBD_TR2_like	cd06967	1.3e-20	416	503
NR_DBD_ER	cd07171	6.7e-31	416	498
NR_DBD_AR	cd07173	1.3e-46	416	498
NR_DBD_GR_PR	cd07172	1.1e-58	417	495
NR_DBD_FXR	cd06962	7.3e-15	418	502
NR_DBD_EcR	cd07161	1.2e-16	418	509
NR_DBD_RXR	cd06956	2.4e-23	419	496
NR_DBD_RAR	cd06964	4.1e-19	419	499
NR_DBD_CAR	cd06966	1.3e-12	419	507
NR_DBD_NGFI-B	cd06969	3.4e-26	419	494
2DBD_NR_DBD1	cd07157	4.4e-13	419	504
NR_DBD_EcR_like	cd06959	7e-20	420	493
NR_DBD_TR	cd06961	2e-23	420	505
NR_DBD_Ppar	cd06965	1.5e-14	420	498
NR_DBD_PXR	cd07162	5.5e-14	420	507
NR_DBD_TLX	cd07163	5.6e-15	420	506
NR_DBD_REV_ERB	cd07166	4.9e-15	420	504
NR_DBD_like	cd06916	7.9e-40	421	493
NR_DBD_PNR_like_2	cd06957	1.7e-19	421	502
NR_DBD_COUP_TF	cd06958	7.5e-21	421	494
NR_DBD_HNF4A	cd06960	2e-27	421	497
NR_DBD_GR_like	cd06963	3.9e-56	421	494
NR_DBD_ROR	cd06968	1.2e-15	421	509
NR_DBD_PNR_like	cd07154	8.5e-22	421	493
NR_DBD_ER_like	cd07155	2.3e-23	421	496
NR_DBD_VDR_like	cd07156	4.5e-20	421	493
NR_DBD_Ppar_like	cd07158	1.4e-18	421	493
NR_DBD_PNR_like_1	cd07164	2.1e-23	421	499
NR_DBD_DmE78_like	cd07165	6.1e-18	421	499
NR_DBD_Lrh-1_like	cd07167	6.3e-22	421	514
2DBD_NR_DBD2	cd07179	4.2e-21	421	495
NR_LBD_ER	cd06949	6.9e-09	528	761
NR_LBD_Ftz-F1_like	cd06944	0.00053	530	761
NR_LBD_GR_Like	cd06947	5.1e-175	532	776
NR_LBD_AR	cd07073	1e-103	532	776
NR_LBD_PR	cd07074	1.8e-113	532	778
NR_LBD_MR	cd07075	6.3e-99	532	778
NR_LBD_GR	cd07076	6.8e-205	532	778
NR_LBD_RXR_like	cd06943	3.1e-06	533	730
NR_LBD_ERR	cd06946	1.4e-11	533	756
NR_LBD_ER_like	cd07068	4.2e-15	533	756
NR_LBD_HNF4_like	cd06931	8.7e-05	535	753
NR_LBD_F1	cd06929	9.7e-06	555	737
NR_LBD_F2	cd06930	3.9e-58	561	729
NR_LBD	cd06157	2.1e-51	562	729
GCR	pfam02155	6.6e-272	26	401
zf-C4	pfam00105	1.6e-41	419	489
Hormone_recep	pfam00104	8.3e-35	592	757
ZnF_C4	smart00399	1.7e-34	420	490
HOLI	smart00430	6e-33	568	729

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs6195	Polymorphism	p.ASN363SER	N/A
OMIM	138040.0013	Disease	p.ARG477HIS	GLUCOCORTICOID RESISTANCE, GENERALIZED
OMIM	600983.0017	Disease	p.ARG673TER	PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL DOMINANT
OMIM	138040.0001	Disease	p.ASP641VAL	GLUCOCORTICOID RESISTANCE, FAMILIAL
OMIM	600983.0016	Disease	p.CYS436TER	PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL DOMINANT
OMIM	600983.0020	Disease	p.GLU972GLY	PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL DOMINANT
OMIM	138040.0014	Disease	p.GLY679SER	GLUCOCORTICOID RESISTANCE, GENERALIZED
OMIM	138040.0008	Disease	p.ILE559ASN	GLUCOCORTICOID RESISTANCE, GENERALIZED
OMIM	138040.0009	Disease	p.ILE747MET	GLUCOCORTICOID RESISTANCE, FAMILIAL
OMIM	138040.0003	Disease	p.LEU753PHE	GLUCOCORTICOID RESISTANCE, CELLULAR
OMIM	138040.0012	Disease	p.LEU773PRO	GLUCOCORTICOID RESISTANCE, GENERALIZED
OMIM	138040.0015	Disease	p.PHE737LEU	GLUCOCORTICOID RESISTANCE, GENERALIZED
OMIM	600983.0019	Disease	p.SER181LEU	PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL DOMINANT
OMIM	600983.0018	Disease	p.SER675TER	PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL DOMINANT
OMIM	138040.0010	Disease	p.VAL571ALA	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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