Results for the protein: P51843

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
NR_LBD_HNF4_like	cd06931	5.3e-10	219	465
NR_LBD_Tlx_PNR_like	cd06950	3.4e-10	220	455
NR_LBD_RXR_like	cd06943	2.1e-05	225	439
NR_LBD_Dax1_like	cd06951	2.7e-133	231	464
NR_LBD_Dax1	cd07350	3.4e-175	231	464
NR_LBD_SHP	cd07349	1.7e-57	238	466
NR_LBD_ER_like	cd07068	0.00049	242	468
NR_LBD_Ftz-F1_like	cd06944	0.00011	245	469
NR_LBD_TR2_like	cd06952	6.5e-10	247	465
NR_LBD_F1	cd06929	3.2e-07	248	447
NR_LBD_F2	cd06930	1e-82	251	439
NR_LBD	cd06157	1.9e-29	252	439
Hormone_recep	pfam00104	2.5e-34	282	465
HOLI	smart00430	4.1e-36	258	439

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_018304	Disease	p.ALA300PRO	X-linked adrenal hypoplasia congenital (XL-AHC)
Swiss-Prot	VAR_004741	Disease	p.ALA300VAL	X-linked adrenal hypoplasia congenital (XL-AHC)
Swiss-Prot	VAR_004745	Disease	p.ARG425GLY	X-linked adrenal hypoplasia congenital (XL-AHC)
Swiss-Prot	VAR_004738	Disease	p.ARG267PRO	X-linked adrenal hypoplasia congenital (XL-AHC)
Swiss-Prot	VAR_018305	Disease	p.ARG425THR	X-linked adrenal hypoplasia congenital (XL-AHC)
Swiss-Prot	VAR_004746	Disease	p.ASN440ILE	X-linked adrenal hypoplasia congenital (XL-AHC)
Swiss-Prot	VAR_004742	Disease	p.GLU377LYS	X-linked adrenal hypoplasia congenital (XL-AHC)
Swiss-Prot	VAR_018302	Disease	p.ILE439SER	X-linked adrenal hypoplasia congenital (XL-AHC)
Swiss-Prot	VAR_018306	Disease	p.LEU466ARG	X-linked adrenal hypoplasia congenital (XL-AHC)
Swiss-Prot	VAR_018301	Disease	p.LEU381HIS	X-linked adrenal hypoplasia congenital (XL-AHC)
Swiss-Prot	VAR_031079	Disease	p.LEU278PRO	X-linked adrenal hypoplasia congenital (XL-AHC)
Swiss-Prot	VAR_018303	Disease	p.LEU295PRO	X-linked adrenal hypoplasia congenital (XL-AHC)
Swiss-Prot	VAR_031081	Disease	p.LEU297PRO	X-linked adrenal hypoplasia congenital (XL-AHC)
Swiss-Prot	VAR_004743	Disease	p.LYS382ASN	X-linked adrenal hypoplasia congenital (XL-AHC)
Swiss-Prot	VAR_031080	Disease	p.TRP291CYS	X-linked adrenal hypoplasia congenital (XL-AHC)
Swiss-Prot	VAR_018300	Disease	p.TYR380ASP	X-linked adrenal hypoplasia congenital (XL-AHC)
Swiss-Prot	VAR_004740	Disease	p.VAL287GLY	X-linked adrenal hypoplasia congenital (XL-AHC)
Swiss-Prot	VAR_004744	Disease	p.VAL385GLY	X-linked adrenal hypoplasia congenital (XL-AHC)
OMIM	300473.0004	Disease	p.ARG267PRO	ADRENAL HYPOPLASIA, CONGENITAL
OMIM	300473.0008	Disease	p.ASN440ILE	ADRENAL HYPOPLASIA, CONGENITAL
OMIM	300473.0001	Disease	p.GLN283TER	ADRENAL HYPOPLASIA, CONGENITAL
OMIM	300473.0029	Disease	p.GLN37TER	ADRENAL HYPOPLASIA, CONGENITAL
OMIM	300473.0009	Disease	p.GLN395TER	ADRENAL HYPOPLASIA, CONGENITAL
OMIM	300473.0020	Disease	p.ILE439SER	ADRENAL HYPOPLASIA, CONGENITAL
OMIM	300473.0023	Disease	p.LEU381HIS	ADRENAL HYPOPLASIA, CONGENITAL
OMIM	300473.0028	Disease	p.LEU297PRO	ADRENAL HYPOPLASIA, CONGENITAL
OMIM	300473.0003	Disease	p.LEU263TER	ADRENAL HYPOPLASIA, CONGENITAL
OMIM	300473.0016	Disease	p.LYS382ASN	ADRENAL HYPOPLASIA, CONGENITAL
OMIM	300473.0030	Disease	p.TRP105CYS	MINERALOCORTICOID DEFICIENCY, ISOLATED
OMIM	300473.0017	Disease	p.TRP291CYS	ADRENAL HYPOPLASIA, CONGENITAL
OMIM	300473.0006	Disease	p.TRP171TER	ADRENAL HYPOPLASIA, CONGENITAL
OMIM	300473.0005	Disease	p.TRP235TER	ADRENAL HYPOPLASIA, CONGENITAL
OMIM	300473.0002	Disease	p.TRP369TER	ADRENAL HYPOPLASIA, CONGENITAL
OMIM	300473.0025	Disease	p.TYR380ASP	ADRENAL HYPOPLASIA, CONGENITAL
OMIM	300473.0021	Disease	p.TYR197TER	ADRENAL HYPOPLASIA, CONGENITAL
OMIM	300473.0010	Disease	p.TYR271TER	ADRENAL HYPOPLASIA, CONGENITAL
OMIM	300473.0027	Disease	p.TYR399TER	ADRENAL HYPOPLASIA, CONGENITAL
OMIM	300473.0011	Disease	p.TYR91TER	ADRENAL HYPOPLASIA, CONGENITAL

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