Results for the protein: P08235

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
NR_DBD_VDR	cd06955	9.8e-12	595	695
NR_DBD_PNR	cd06970	5e-19	595	681
NR_DBD_DHR4_like	cd07168	5.9e-22	595	682
NR_DBD_GCNF_like	cd07169	5.3e-23	595	682
NR_DBD_TLX	cd07163	5.4e-18	596	684
NR_DBD_RAR	cd06964	3.1e-23	597	677
NR_DBD_ERR	cd07170	3.9e-24	597	693
NR_DBD_TR2_like	cd06967	4.6e-23	598	688
NR_DBD_REV_ERB	cd07166	4.4e-16	598	685
NR_DBD_ER	cd07171	6.8e-30	598	679
NR_DBD_AR	cd07173	1.8e-49	598	679
NR_DBD_GR_PR	cd07172	7.6e-59	599	676
NR_DBD_FXR	cd06962	3.2e-15	600	683
NR_DBD_ROR	cd06968	4.7e-21	600	693
NR_DBD_EcR	cd07161	8.7e-19	600	690
NR_DBD_RXR	cd06956	9e-24	601	677
NR_DBD_CAR	cd06966	1.7e-18	601	692
NR_DBD_NGFI-B	cd06969	8.4e-26	601	675
2DBD_NR_DBD1	cd07157	2.5e-13	601	684
NR_DBD_EcR_like	cd06959	3.3e-21	602	674
NR_DBD_TR	cd06961	2.5e-24	602	684
NR_DBD_Ppar	cd06965	6.4e-15	602	689
NR_DBD_PXR	cd07162	4.7e-17	602	688
NR_DBD_like	cd06916	1e-41	603	674
NR_DBD_PNR_like_2	cd06957	1.2e-22	603	683
NR_DBD_COUP_TF	cd06958	1.1e-22	603	675
NR_DBD_HNF4A	cd06960	3.5e-30	603	678
NR_DBD_GR_like	cd06963	4.2e-56	603	675
NR_DBD_PNR_like	cd07154	1.5e-23	603	674
NR_DBD_ER_like	cd07155	1.3e-26	603	676
NR_DBD_VDR_like	cd07156	3.4e-23	603	678
NR_DBD_Ppar_like	cd07158	8.3e-21	603	674
NR_DBD_PNR_like_1	cd07164	2.4e-24	603	680
NR_DBD_DmE78_like	cd07165	2.5e-19	603	683
NR_DBD_Lrh-1_like	cd07167	3.1e-24	603	691
2DBD_NR_DBD2	cd07179	8.6e-19	603	676
NR_LBD_Nurr1_like	cd06945	0.00035	720	970
NR_LBD_HNF4_like	cd06931	0.00074	729	938
NR_LBD_ER	cd06949	2.5e-09	734	967
NR_LBD_GR_Like	cd06947	8e-183	737	982
NR_LBD_PR	cd07074	2.5e-118	737	984
NR_LBD_MR	cd07075	8.9e-182	737	984
NR_LBD_GR	cd07076	1.2e-128	737	984
NR_LBD_DHR4_like	cd06953	3.4e-05	738	948
NR_LBD_RXR_like	cd06943	2.4e-07	739	932
NR_LBD_ERR	cd06946	4.3e-10	739	958
NR_LBD_ER_like	cd07068	1.3e-14	739	966
NR_LBD_AR	cd07073	3.8e-104	739	982
NR_LBD_F1	cd06929	1.2e-06	763	942
NR_LBD_Sex_1_like	cd06942	5.5e-05	763	961
NR_LBD_F2	cd06930	1.6e-55	766	934
NR_LBD	cd06157	4.1e-50	767	934
zf-C4	pfam00105	6.2e-44	601	670
Hormone_recep	pfam00104	2.7e-38	797	963
ZnF_C4	smart00399	3.8e-35	602	671
HOLI	smart00430	4.5e-36	773	934

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_015625	Polymorphism	p.ALA241VAL	N/A
Swiss-Prot	VAR_014625	Polymorphism	p.ARG537GLN	N/A
Swiss-Prot	VAR_031270	Disease	p.ARG659SER	Pseudohypoaldosteronism 1, autosomal dominant (PHA1A)
Swiss-Prot	VAR_031273	Disease	p.ASN770LYS	Pseudohypoaldosteronism 1, autosomal dominant (PHA1A)
Swiss-Prot	VAR_014626	Polymorphism	p.ASN554SER	N/A
Swiss-Prot	VAR_014624	Polymorphism	p.ASN444THR	N/A
Swiss-Prot	VAR_031269	Disease	p.CYS645SER	Pseudohypoaldosteronism 1, autosomal dominant (PHA1A)
Swiss-Prot	VAR_031274	Disease	p.GLN776ARG	Pseudohypoaldosteronism 1, autosomal dominant (PHA1A)
Swiss-Prot	VAR_031278	Disease	p.GLU972GLY	Pseudohypoaldosteronism 1, autosomal dominant (PHA1A)
Swiss-Prot	VAR_031268	Disease	p.GLY633ARG	Pseudohypoaldosteronism 1, autosomal dominant (PHA1A)
Swiss-Prot	VAR_036063	Polymorphism	p.HIS7GLN	N/A
Swiss-Prot	VAR_014623	Polymorphism	p.ILE180VAL	N/A
Swiss-Prot	VAR_031272	Disease	p.LEU769PRO	Pseudohypoaldosteronism 1, autosomal dominant (PHA1A)
Swiss-Prot	VAR_015627	Disease	p.LEU924PRO	Pseudohypoaldosteronism 1, autosomal dominant (PHA1A)
Swiss-Prot	VAR_031279	Disease	p.LEU979PRO	Pseudohypoaldosteronism 1, autosomal dominant (PHA1A)
Swiss-Prot	VAR_029311	Polymorphism	p.PHE826TYR	N/A
Swiss-Prot	VAR_031271	Disease	p.PRO759SER	Pseudohypoaldosteronism 1, autosomal dominant (PHA1A)
Swiss-Prot	VAR_031276	Disease	p.SER815ARG	Pseudohypoaldosteronism 1, autosomal dominant (PHA1A)
Swiss-Prot	VAR_015626	Disease	p.SER810LEU	Early-onset hypertension with severe exacerbation in pregnancy (EOHSEP)
Swiss-Prot	VAR_031277	Disease	p.SER818LEU	Pseudohypoaldosteronism 1, autosomal dominant (PHA1A)
Swiss-Prot	VAR_031275	Disease	p.SER805PRO	Pseudohypoaldosteronism 1, autosomal dominant (PHA1A)

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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