Results for the protein: NP

Results for the Protein: NP_000956

14916494

5915

RARB

NCBI

retinoic acid receptor beta isoform 1 [Homo sapiens]

Known Diseases associated with this Protein:
MICROPHTHALMIA, SYNDROMIC 12

3

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3

0

0

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RefSeq Protein: NP_000956

Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
NR_DBD_PNR	cd06970	1e-25	73	163
NR_DBD_GCNF_like	cd07169	5.7e-34	73	157
NR_DBD_DHR4_like	cd07168	6.9e-35	73	157
NR_DBD_TLX	cd07163	1.9e-27	74	162
NR_DBD_RAR	cd06964	2.3e-72	75	159
NR_DBD_VDR	cd06955	2.4e-20	76	170
NR_DBD_TR2_like	cd06967	5e-37	76	162
NR_DBD_REV_ERB	cd07166	7e-36	76	163
NR_DBD_ERR	cd07170	1.6e-25	76	171
NR_DBD_ER	cd07171	2.8e-29	76	157
NR_DBD_AR	cd07173	6.2e-18	76	158
NR_DBD_GR_PR	cd07172	2.7e-15	77	154
NR_DBD_FXR	cd06962	7.9e-27	78	161
NR_DBD_RXR	cd06956	1.3e-34	79	155
NR_DBD_CAR	cd06966	1.1e-24	79	172
NR_DBD_NGFI-B	cd06969	2.8e-40	79	153
2DBD_NR_DBD1	cd07157	4.1e-16	79	162
NR_DBD_EcR_like	cd06959	1e-28	80	152
NR_DBD_TR	cd06961	4.3e-41	80	164
NR_DBD_Ppar	cd06965	8.1e-31	80	164
NR_DBD_ROR	cd06968	8.7e-36	80	168
NR_DBD_like	cd06916	1.2e-50	81	152
NR_DBD_PNR_like_2	cd06957	1.8e-28	81	161
NR_DBD_COUP_TF	cd06958	1.6e-31	81	153
NR_DBD_HNF4A	cd06960	9.3e-41	81	156
NR_DBD_GR_like	cd06963	2e-17	81	153
NR_DBD_PNR_like	cd07154	6.6e-29	81	152
NR_DBD_ER_like	cd07155	1.3e-30	81	155
NR_DBD_VDR_like	cd07156	1.2e-31	81	152
NR_DBD_Ppar_like	cd07158	4.1e-39	81	152
NR_DBD_EcR	cd07161	4.8e-28	81	168
NR_DBD_PXR	cd07162	1e-25	81	166
NR_DBD_PNR_like_1	cd07164	2.5e-29	81	158
NR_DBD_DmE78_like	cd07165	1.5e-41	81	161
NR_DBD_Lrh-1_like	cd07167	8.2e-30	81	173
2DBD_NR_DBD2	cd07179	5.4e-36	81	154
NR_LBD_VDR	cd06933	1.5e-07	117	411
NR_LBD_PPAR	cd06932	6.7e-12	129	410
NR_LBD_RXR_like	cd06943	9.2e-14	172	392
NR_LBD_PXR_like	cd06934	9e-10	173	406
NR_LBD_TR	cd06935	2.8e-58	175	406
NR_LBD_Fxr	cd06936	3.9e-10	175	405
NR_LBD_ROR_like	cd06939	3.5e-14	175	407
NR_LBD_DHR38_like	cd07072	7.7e-29	175	413
NR_LBD_Nurr1_like	cd06945	8.1e-25	176	413
NR_LBD_EcR	cd06938	2.1e-33	177	409
NR_LBD_LXR	cd06954	2e-31	178	406
NR_LBD_RAR	cd06937	5.4e-203	179	409
NR_LBD_Nurr1	cd07071	4.2e-13	179	413
NR_LBD_NGFI-B	cd07348	8.6e-23	179	413
NR_LBD_Ftz-F1_like	cd06944	5.9e-06	180	410
NR_LBD_COUP-TF	cd06948	1.3e-07	187	419
NR_LBD_Tlx_PNR_like	cd06950	0.00072	190	391
NR_LBD_HNF4_like	cd06931	1.1e-09	191	406
NR_LBD_DHR4_like	cd06953	0.0001	191	405
NR_LBD_ER	cd06949	2.3e-07	193	410
NR_LBD_ERR	cd06946	7.8e-08	195	409
NR_LBD_ER_like	cd07068	1.4e-12	195	409
NR_LBD_REV_ERB	cd06940	1e-29	205	393
NR_LBD_F1	cd06929	5.9e-79	215	388
NR_LBD_DmE78_like	cd06941	6.2e-35	215	408
NR_LBD_Sex_1_like	cd06942	1.1e-07	215	404
NR_LBD_F2	cd06930	1.3e-17	218	380
NR_LBD	cd06157	2e-52	219	380
NR_LBD_TR2_like	cd06952	0.00016	222	393
zf-C4	pfam00105	4.4e-50	79	148
Hormone_recep	pfam00104	2.9e-38	249	406
ZnF_C4	smart00399	3.5e-41	80	149
HOLI	smart00430	8.9e-33	225	380

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
OMIM	180220.0003	Disease	p.ARG387CYS	MICROPHTHALMIA, SYNDROMIC 12
OMIM	180220.0004	Disease	p.ARG387SER	MICROPHTHALMIA, SYNDROMIC 12
OMIM	180220.0001	Disease	p.ARG119TER	MICROPHTHALMIA, SYNDROMIC 12

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.

DMDM_info@umbc.edu | 1000 Hilltop Circle, Baltimore, MD 21250 | Department of Biological Sciences | Phone: 410-455-2258