Results for the protein: NP

Results for the Protein: NP_001191190

324021677

2908

NR3C1

NCBI

glucocorticoid receptor isoform alpha-C3 [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_001191190

Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
NR_DBD_VDR	cd06955	1.9e-13	316	422
NR_DBD_PNR	cd06970	2.6e-20	316	406
NR_DBD_DHR4_like	cd07168	5.1e-21	316	396
NR_DBD_GCNF_like	cd07169	2.8e-21	316	405
NR_DBD_ERR	cd07170	1.6e-25	318	414
NR_DBD_TR2_like	cd06967	3.7e-22	319	405
NR_DBD_ER	cd07171	5.2e-31	319	400
NR_DBD_AR	cd07173	2.2e-48	319	400
NR_DBD_GR_PR	cd07172	5.3e-59	320	397
NR_DBD_FXR	cd06962	2.5e-16	321	404
NR_DBD_EcR	cd07161	1.6e-17	321	411
NR_DBD_RXR	cd06956	6.4e-25	322	398
NR_DBD_RAR	cd06964	3.5e-20	322	401
NR_DBD_CAR	cd06966	3.1e-14	322	409
NR_DBD_NGFI-B	cd06969	4.4e-28	322	396
2DBD_NR_DBD1	cd07157	1.9e-12	322	406
NR_DBD_EcR_like	cd06959	6.6e-21	323	395
NR_DBD_TR	cd06961	2.6e-24	323	407
NR_DBD_Ppar	cd06965	1.9e-14	323	400
NR_DBD_PXR	cd07162	5.6e-15	323	409
NR_DBD_REV_ERB	cd07166	4.9e-15	323	406
NR_DBD_TLX	cd07163	7.9e-16	323	408
NR_DBD_like	cd06916	3.9e-41	324	395
NR_DBD_COUP_TF	cd06958	1.7e-21	324	396
NR_DBD_HNF4A	cd06960	8.5e-29	324	399
NR_DBD_PNR_like_2	cd06957	1.8e-20	324	404
NR_DBD_GR_like	cd06963	2.5e-58	324	396
NR_DBD_ROR	cd06968	1.3e-17	324	411
NR_DBD_PNR_like	cd07154	2.2e-22	324	395
NR_DBD_ER_like	cd07155	1.8e-25	324	398
NR_DBD_VDR_like	cd07156	4.1e-21	324	395
NR_DBD_Ppar_like	cd07158	4e-20	324	395
NR_DBD_PNR_like_1	cd07164	4.3e-24	324	401
NR_DBD_DmE78_like	cd07165	5.9e-19	324	401
NR_DBD_Lrh-1_like	cd07167	2.7e-24	324	416
2DBD_NR_DBD2	cd07179	4.3e-21	324	397
NR_LBD_ER	cd06949	6.9e-09	430	663
NR_LBD_Ftz-F1_like	cd06944	0.00053	432	663
NR_LBD_GR_Like	cd06947	5.1e-175	434	678
NR_LBD_AR	cd07073	1e-103	434	678
NR_LBD_PR	cd07074	1.8e-113	434	680
NR_LBD_MR	cd07075	6.3e-99	434	680
NR_LBD_GR	cd07076	6.8e-205	434	680
NR_LBD_RXR_like	cd06943	3.1e-06	435	632
NR_LBD_ERR	cd06946	1.4e-11	435	658
NR_LBD_ER_like	cd07068	4.2e-15	435	658
NR_LBD_HNF4_like	cd06931	8.7e-05	437	655
NR_LBD_F1	cd06929	9.7e-06	457	639
NR_LBD_F2	cd06930	3.9e-58	463	631
NR_LBD	cd06157	2.1e-51	464	631
GCR	pfam02155	4.7e-190	1	304
zf-C4	pfam00105	3.1e-43	322	391
Hormone_recep	pfam00104	8.3e-35	494	659
ZnF_C4	smart00399	1.3e-35	323	392
HOLI	smart00430	6e-33	470	631

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs6195	Polymorphism	p.ASN266SER	N/A
OMIM	138040.0013	Disease	p.ARG379HIS	GLUCOCORTICOID RESISTANCE, GENERALIZED
OMIM	600983.0017	Disease	p.ARG575TER	PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL DOMINANT
OMIM	138040.0001	Disease	p.ASP543VAL	GLUCOCORTICOID RESISTANCE, FAMILIAL
OMIM	600983.0016	Disease	p.CYS339TER	PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL DOMINANT
OMIM	600983.0020	Disease	p.GLU874GLY	PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL DOMINANT
OMIM	138040.0014	Disease	p.GLY581SER	GLUCOCORTICOID RESISTANCE, GENERALIZED
OMIM	138040.0008	Disease	p.ILE461ASN	GLUCOCORTICOID RESISTANCE, GENERALIZED
OMIM	138040.0009	Disease	p.ILE649MET	GLUCOCORTICOID RESISTANCE, FAMILIAL
OMIM	138040.0003	Disease	p.LEU655PHE	GLUCOCORTICOID RESISTANCE, CELLULAR
OMIM	138040.0012	Disease	p.LEU675PRO	GLUCOCORTICOID RESISTANCE, GENERALIZED
OMIM	138040.0015	Disease	p.PHE639LEU	GLUCOCORTICOID RESISTANCE, GENERALIZED
OMIM	600983.0019	Disease	p.SER84LEU	PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL DOMINANT
OMIM	600983.0018	Disease	p.SER577TER	PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL DOMINANT
OMIM	138040.0010	Disease	p.VAL473ALA	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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