Results for the protein: NP

Results for the Protein: NP_001017536

323714265

7421

VDR

NCBI

vitamin D3 receptor isoform VDRB1 [Homo sapiens]

Known Diseases associated with this Protein:
VITAMIN D-DEPENDENT RICKETS, TYPE 2A

14

1

14

1

0

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RefSeq Protein: NP_001017536

Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
NR_DBD_VDR	cd06955	3.4e-86	66	172
NR_DBD_PNR	cd06970	2.5e-18	66	157
NR_DBD_TLX	cd07163	1.4e-15	67	156
NR_DBD_DHR4_like	cd07168	1.4e-23	67	156
NR_DBD_GCNF_like	cd07169	7e-22	67	155
NR_DBD_RAR	cd06964	2.1e-27	68	152
NR_DBD_ROR	cd06968	1.4e-22	68	161
NR_DBD_ERR	cd07170	9.6e-21	68	165
NR_DBD_TR2_like	cd06967	1.5e-26	69	155
NR_DBD_REV_ERB	cd07166	1.6e-21	69	156
NR_DBD_ER	cd07171	7.1e-24	69	150
NR_DBD_AR	cd07173	3.4e-15	69	152
NR_DBD_GR_PR	cd07172	5.1e-11	70	147
NR_DBD_FXR	cd06962	1.4e-31	71	154
NR_DBD_EcR	cd07161	2.6e-32	71	161
NR_DBD_RXR	cd06956	1.2e-22	72	148
NR_DBD_CAR	cd06966	3.8e-40	72	165
NR_DBD_NGFI-B	cd06969	3.6e-25	72	146
2DBD_NR_DBD1	cd07157	4e-21	72	157
NR_DBD_EcR_like	cd06959	1.4e-28	73	145
NR_DBD_TR	cd06961	1.8e-32	73	157
NR_DBD_Ppar	cd06965	2.5e-19	73	157
NR_DBD_PXR	cd07162	4.4e-47	73	159
NR_DBD_like	cd06916	1.9e-43	74	145
NR_DBD_PNR_like_2	cd06957	2.5e-18	74	155
NR_DBD_COUP_TF	cd06958	1.3e-22	74	146
NR_DBD_HNF4A	cd06960	3e-31	74	149
NR_DBD_GR_like	cd06963	1.5e-14	74	146
NR_DBD_PNR_like	cd07154	5.6e-22	74	145
NR_DBD_ER_like	cd07155	5.7e-25	74	148
NR_DBD_VDR_like	cd07156	1.9e-54	74	145
NR_DBD_Ppar_like	cd07158	6.7e-27	74	145
NR_DBD_PNR_like_1	cd07164	6.7e-23	74	151
NR_DBD_DmE78_like	cd07165	1.4e-24	74	154
NR_DBD_Lrh-1_like	cd07167	9.3e-18	74	164
2DBD_NR_DBD2	cd07179	1.7e-24	74	147
NR_LBD_VDR	cd06933	2.2e-208	174	476
NR_LBD_PXR_like	cd06934	1.3e-65	174	471
NR_LBD_LXR	cd06954	2.8e-30	178	471
NR_LBD_PPAR	cd06932	8.9e-12	183	475
NR_LBD_TR	cd06935	9.9e-09	232	471
NR_LBD_EcR	cd06938	8.2e-22	233	474
NR_LBD_DHR38_like	cd07072	7.7e-05	233	477
NR_LBD_Nurr1_like	cd06945	8.9e-07	235	476
NR_LBD_RAR	cd06937	1.8e-12	239	474
NR_LBD_Nurr1	cd07071	0.00067	239	471
NR_LBD_Fxr	cd06936	1.6e-10	241	470
NR_LBD_ROR_like	cd06939	3.2e-11	241	472
NR_LBD_HNF4_like	cd06931	6.8e-05	242	471
NR_LBD_NGFI-B	cd07348	0.00019	243	477
NR_LBD_DHR4_like	cd06953	0.00078	245	471
NR_LBD_ER_like	cd07068	3.7e-08	250	466
NR_LBD_ERR	cd06946	6.1e-07	253	466
NR_LBD_RXR_like	cd06943	5.2e-06	256	432
NR_LBD_REV_ERB	cd06940	2.7e-22	264	458
NR_LBD_F1	cd06929	6.3e-69	274	451
NR_LBD_DmE78_like	cd06941	3.4e-10	274	473
NR_LBD_Sex_1_like	cd06942	5.4e-08	274	469
NR_LBD_F2	cd06930	3.4e-11	277	443
NR_LBD	cd06157	7.1e-45	278	443
zf-C4	pfam00105	6.5e-43	72	141
Hormone_recep	pfam00104	1.1e-38	308	471
ZnF_C4	smart00399	6.5e-35	73	142
HOLI	smart00430	1.1e-33	284	443

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs2228570	Polymorphism	p.MET51ARG	N/A
OMIM	601769.0011	Disease	p.ARG391CYS	VITAMIN D-DEPENDENT RICKETS, TYPE 2A
OMIM	601769.0005	Disease	p.ARG47GLN	VITAMIN D-DEPENDENT RICKETS, TYPE 2A
OMIM	601769.0002	Disease	p.ARG73GLN	VITAMIN D-DEPENDENT RICKETS, TYPE 2A
OMIM	601769.0004	Disease	p.ARG77GLN	VITAMIN D-DEPENDENT RICKETS, TYPE 2A
OMIM	601769.0007	Disease	p.ARG271LEU	VITAMIN D-DEPENDENT RICKETS, TYPE 2A
OMIM	601769.0012	Disease	p.ARG30TER	VITAMIN D-DEPENDENT RICKETS, TYPE 2A
OMIM	601769.0006	Disease	p.GLN149TER	VITAMIN D-DEPENDENT RICKETS, TYPE 2A
OMIM	601769.0014	Disease	p.GLU329LYS	VITAMIN D-DEPENDENT RICKETS, TYPE 2A
OMIM	601769.0001	Disease	p.GLY33ASP	VITAMIN D-DEPENDENT RICKETS, TYPE 2A
OMIM	601769.0008	Disease	p.GLY46ASP	VITAMIN D-DEPENDENT RICKETS, TYPE 2A
OMIM	601769.0009	Disease	p.HIS305GLN	VITAMIN D-DEPENDENT RICKETS, TYPE 2A
OMIM	601769.0010	Disease	p.ILE314SER	VITAMIN D-DEPENDENT RICKETS, TYPE 2A
OMIM	601769.0003	Disease	p.TYR292TER	VITAMIN D-DEPENDENT RICKETS, TYPE 2A
OMIM	601769.0015	Disease	p.VAL346MET	VITAMIN D-DEPENDENT RICKETS, TYPE 2A

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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