Results for the protein: Q16671

Results for the Protein: Q16671

9087133

269

AMHR2

NCBI, UniProt

AMHR2_HUMAN RecName: Full=Anti-Muellerian hormone type-2 receptor; AltName: Full=Anti-Muellerian hormone type II receptor; Short=AMH type II receptor; AltName: Full=MIS type II receptor; Short=MISRII; Short=MRII; Flags: Precursor

Known Diseases associated with this Protein:
PERSISTENT MUELLERIAN DUCT SYNDROME 2 (PMDS2)
PERSISTENT MULLERIAN DUCT SYNDROME, TYPE II

9

1

1

0

9

Tips:

The Domains on the Default View are decided by the Domain's E-Value.

Clicking a check box will display or hide the correlated domain.

To view the Gene page, either click on the link to the left or the blue bar above the Protein's graphic.

Swiss-Prot Protein: Q16671

Identical to: NP_065434

Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
STKc_PAK	cd06614	3.6e-05	190	509
PTKc_InsR_like	cd05032	1.8e-05	193	507
PTKc_Csk_like	cd05039	0.0001	193	508
PTKc_Frk_like	cd05068	7.1e-05	193	508
PTKc_Csk	cd05082	0.00039	193	508
PTKc_FAK	cd05056	0.0003	195	513
STKc_ASK	cd06624	0.0005	195	489
PTKc_Trk	cd05049	0.00017	196	507
PTKc_Chk	cd05083	8.8e-05	197	508
PTKc_EphR	cd05033	3.9e-05	198	509
PTKc_ALK_LTK	cd05036	0.00019	198	507
PTKc_Jak_rpt2	cd05038	3.8e-08	198	509
PTKc_Src_like	cd05034	1.4e-05	199	508
PTKc_Lck_Blk	cd05067	0.00022	199	508
PTKc_Lyn	cd05072	0.00035	199	508
PTKc_Hck	cd05073	0.00084	199	508
PTKc_Yes	cd05069	0.00023	199	508
PTKc_Jak2_Jak3_rpt2	cd05081	3.2e-07	199	509
PTKc_Itk	cd05112	0.00067	199	506
PTKc_Srm_Brk	cd05148	1.5e-07	199	508
PKc_MAPKK_plant_like	cd06623	0.0007	199	506
STKc_Nek6_Nek7	cd08224	5.8e-05	200	510
PKc_STE	cd05122	5.7e-06	202	512
STKc_MAPKKK	cd06606	7.3e-11	202	499
STKc_Cdc7_like	cd06627	6.3e-08	202	501
STKc_CCRK	cd07832	2.9e-06	202	506
PTKc_Tyk2_rpt2	cd05080	1.7e-06	203	510
STKc_CDK7	cd07841	2.4e-06	204	518
STKc_CMGC	cd05118	3.4e-06	205	513
STKc_PDK1	cd05581	0.00028	205	518
STKc_CDK_like	cd07829	2.3e-05	205	511
STKc_MEKK4	cd06626	0.00049	206	489
PTKc	cd00192	1.5e-08	207	506
PTKc_Fes_like	cd05041	4e-07	207	507
PTKc_c-ros	cd05044	1.7e-05	207	507
STKc_MEKK3_like	cd06625	0.00032	207	489
STKc_MEKK1_plant	cd06632	0.00016	207	513
STKc_Nek	cd08215	1e-05	207	507
STKc_CNK2-like	cd08530	0.00023	207	507
STKc_FA2-like	cd08529	0.00014	207	444
PKc	cd00180	1.1e-29	209	504
STKc_AGC	cd05123	0.0002	209	503
STKc_GRK	cd05577	0.00054	209	531
Pkinase	pfam00069	5.2e-24	203	505
Pkinase_Tyr	pfam07714	1.1e-13	203	505
TyrKc	smart00219	1.3e-10	203	505
STYKc	smart00221	8.6e-09	203	489
S_TKc	smart00220	1.2e-11	213	506

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_015532	Disease	p.ARG504CYS	Persistent Muellerian duct syndrome 2 (PMDS2)
Swiss-Prot	VAR_015525	Disease	p.ARG54CYS	Persistent Muellerian duct syndrome 2 (PMDS2)
Swiss-Prot	VAR_015528	Disease	p.ARG406GLN	Persistent Muellerian duct syndrome 2 (PMDS2)
Swiss-Prot	VAR_069048	Polymorphism	p.ARG319HIS	N/A
Swiss-Prot	VAR_015529	Disease	p.ASP426GLY	Persistent Muellerian duct syndrome 2 (PMDS2)
Swiss-Prot	VAR_015531	Disease	p.ASP491HIS	Persistent Muellerian duct syndrome 2 (PMDS2)
Swiss-Prot	VAR_015526	Disease	p.GLY142VAL	Persistent Muellerian duct syndrome 2 (PMDS2)
Swiss-Prot	VAR_015527	Disease	p.HIS282GLN	Persistent Muellerian duct syndrome 2 (PMDS2)
Swiss-Prot	VAR_015530	Disease	p.VAL458ALA	Persistent Muellerian duct syndrome 2 (PMDS2)
OMIM	600956.0004	Disease	p.ARG406GLN	PERSISTENT MULLERIAN DUCT SYNDROME, TYPE II

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