Results for the protein: NP

Results for the Protein: NP_001159752

261878455

4593

MUSK

NCBI

muscle, skeletal receptor tyrosine-protein kinase isoform 2 [Homo sapiens]

Known Diseases associated with this Protein:
DEFICIENCY
MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR

3

4

3

4

0

Tips:

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RefSeq Protein: NP_001159752

Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
Ig3_Contactin_like	cd04968	0.00065	27	118
Ig3_NCAM-1_like	cd05730	2.2e-05	27	120
Ig5_KIRREL3-like	cd05758	5.3e-05	27	113
Ig2_FGFR	cd05857	0.00072	34	117
Ig2_FGFR_like	cd05729	0.00051	35	117
Ig2_Robo	cd05724	5.4e-08	35	117
Ig4_L1-NrCAM_like	cd04978	1.4e-05	42	118
Ig3_Peroxidasin	cd05745	0.00043	43	117
Ig4_Neogenin	cd05723	0.00082	44	117
Ig	cd00096	8.7e-10	45	115
Ig2_Follistatin_like	cd05736	0.00031	45	120
Ig2_RPTP_IIa_LAR_lik	cd05738	0.00039	45	118
Ig3_Robo	cd05725	9.2e-08	45	117
Ig3_L1-CAM	cd05876	7.6e-05	45	110
Ig5_Contactin_like	cd04969	1.8e-05	49	117
Ig3_L1-CAM_like	cd05731	1.7e-05	49	110
Ig1_NCAM-1_like	cd04977	0.00035	115	208
Ig5_NCAM-1_like	cd05732	8.4e-05	119	208
Ig5_NCAM-1	cd05869	0.00011	119	208
Ig2_FGFR_like	cd05729	4.2e-06	120	208
Ig_CEACAM_D4	cd05740	0.00094	120	209
Ig3_Contactin-1	cd05851	8e-05	120	209
Ig2_FGFRL1-like	cd05856	0.00055	120	208
Ig1_Robo	cd07693	6.3e-09	120	209
Ig1_Contactin	cd04967	0.00045	121	205
Ig3_Contactin_like	cd04968	3.1e-07	121	209
Ig8_MLCK	cd05762	0.00081	121	216
Ig_M-protein_C	cd05891	4.1e-06	123	208
Ig4_Contactin-2-like	cd05728	7e-07	124	208
Ig1_Neogenin	cd05722	1.8e-05	124	208
Ig3_NCAM-1_like	cd05730	3.5e-05	125	223
Ig2_Robo	cd05724	1.7e-16	125	208
Ig2_IL1R_like	cd05757	6.8e-05	126	210
Ig_Myomesin_like_C	cd05737	5.1e-06	130	208
Ig3_Peroxidasin	cd05745	2.3e-15	134	208
Ig2_FGFR	cd05857	0.00011	134	208
Ig5_Contactin_like	cd04969	1.9e-19	135	208
Ig4_L1-NrCAM_like	cd04978	1.5e-06	135	204
Ig_2	cd05764	3.7e-06	135	208
Ig4_Robo	cd05726	5.2e-08	135	217
Ig5_Contactin-1	cd05852	1.5e-13	135	208
Ig4_Neogenin	cd05723	0.00017	137	208
Ig_Titin_like	cd05748	0.00051	137	208
Ig	cd00096	1.2e-16	138	204
Ig3_L1-CAM_like	cd05731	1.1e-08	138	205
Ig6_L1-CAM_like	cd05733	1.7e-05	138	207
Ig7_DSCAM	cd05734	0.00077	138	208
Ig2_Follistatin_like	cd05736	0.00013	138	211
Ig2_RPTP_IIa_LAR_lik	cd05738	2.7e-16	138	209
Ig_Myotilin_C_like	cd05744	0.00093	138	208
Ig4_Peroxidasin	cd05746	2.9e-11	138	206
Ig_Pro_neuregulin	cd05750	0.00015	138	203
Ig2_PTK7	cd05760	0.00032	138	211
Ig_1	cd05763	2.1e-05	138	209
Ig3_Robo	cd05725	1e-06	138	208
Ig6_hNeurofascin_lik	cd05875	0.00081	138	207
Ig3_L1-CAM	cd05876	2.3e-06	138	205
Ig3_Contactin_like	cd04968	0.00018	222	312
Ig2_FGFRL1-like	cd05856	2.7e-05	222	309
Ig2_Robo	cd05724	3.4e-06	226	313
Ig2_FGFR_like	cd05729	1.4e-05	228	309
Ig4_L1-NrCAM_like	cd04978	6e-05	236	314
Ig_Perlecan_D2_like	cd05743	0.00068	236	311
Ig	cd00096	2.3e-07	239	306
Ig4_Neogenin	cd05723	0.00011	239	313
CRD_TK_ROR_like	cd07459	0.00091	258	375
CRD_TK_ROR_related	cd07469	5.1e-11	279	379
PTKc_PDGFR_beta	cd05107	3.3e-24	452	775
PTKc_Kit	cd05104	3.6e-45	458	774
PTKc_PDGFR_alpha	cd05105	1.7e-26	458	776
PTKc_CSF-1R	cd05106	5.9e-53	458	775
STKc_TAO1	cd06635	0.00022	466	783
STKc_PAK6	cd06659	0.00019	467	783
STKc_myosinIIIB	cd06639	1.6e-05	467	771
PTKc_PDGFR	cd05055	2.6e-41	468	774
STKc_PAK	cd06614	4.7e-13	468	783
STKc_PAK_II	cd06648	1.7e-06	470	783
STKc_myosinIIIA	cd06638	0.00023	471	770
PTKc_FGFR3	cd05100	1.8e-50	473	783
PKc_MKK7	cd06618	1.4e-05	474	776
PTKc_Tec_like	cd05059	3.4e-51	475	771
STKc_TAO	cd06607	0.00048	476	782
STKc_TAO2	cd06634	0.00012	476	782
STKc_STK10_LOK	cd06644	3.6e-05	476	781
PTKc_FGFR	cd05053	6.8e-75	477	775
PTKc_FGFR1	cd05098	8.4e-63	477	778
PTKc_FGFR4	cd05099	4.4e-71	477	782
PTKc_FGFR2	cd05101	9.3e-62	477	781
PTKc_Chk	cd05083	1.1e-52	479	773
PTKc_EGFR	cd05108	1.6e-21	479	782
PTKc_HER4	cd05110	4.3e-19	479	779
STKc_ASK	cd06624	3.5e-06	480	770
STKc_MAP4K3	cd06645	2.5e-06	480	774
STKc_MAP4K5	cd06646	8.9e-06	480	774
PTKc_VEGFR	cd05054	5.5e-44	481	777
PTKc_EGFR_like	cd05057	1.5e-53	481	781
PTKc_VEGFR3	cd05102	8.6e-55	481	777
PTKc_VEGFR2	cd05103	3.2e-42	481	777
PTKc_InsR_like	cd05032	1.1e-102	482	772
PTKc_ALK_LTK	cd05036	1.6e-83	482	772
PTKc_Src_like	cd05034	6.6e-69	482	773
PTKc_Csk_like	cd05039	5.8e-42	482	773
PTK_Ryk	cd05043	3e-26	482	770
PTKc_Abl	cd05052	2.4e-75	482	774
PTKc_InsR	cd05061	8.6e-78	482	783
PTKc_IGF-1R	cd05062	1.5e-81	482	772
PTKc_EphR_B	cd05065	4.4e-59	482	774
PTKc_EphR_A	cd05066	2.1e-66	482	774
PTKc_Lck_Blk	cd05067	1.5e-52	482	773
PTKc_Frk_like	cd05068	1.3e-73	482	773
PTKc_Yes	cd05069	1.7e-41	482	773
PTKc_Src	cd05071	1.2e-40	482	775
PTKc_Lyn	cd05072	1.4e-53	482	773
PTKc_Hck	cd05073	1.3e-52	482	773
PTKc_Csk	cd05082	5.4e-44	482	773
PTKc_Fyn_Yrk	cd05070	5e-44	482	773
PTKc_FAK	cd05056	8.6e-76	482	778
STKc_myosinIII_like	cd06608	7e-05	482	770
PTKc_Trk	cd05049	2.8e-134	483	772
PTKc_Musk	cd05050	2.1e-243	483	772
PTKc_DDR	cd05051	1.3e-90	483	772
PTKc_Ror	cd05048	1.1e-130	483	773
PTKc_EphR_A10	cd05064	2.3e-55	483	774
PTK_Tyk2_rpt1	cd05076	0.00023	483	771
PTK_CCK4	cd05046	1.4e-77	483	772
PTKc_Ror1	cd05090	6.3e-105	483	773
PTKc_Ror2	cd05091	1.7e-87	483	773
PTKc_TrkA	cd05092	2.9e-103	483	772
PTKc_TrkB	cd05093	8.5e-101	483	782
PTKc_TrkC	cd05094	7.9e-77	483	782
PTKc_DDR1	cd05096	1.5e-72	483	772
PTKc_DDR_like	cd05097	8.8e-82	483	772
PTKc_DDR2	cd05095	4.5e-83	483	772
PTKc_EphR_A2	cd05063	9.5e-55	483	774
PTKc_Srm_Brk	cd05148	1e-56	483	773
STKc_SLK_like	cd06611	1.1e-06	483	775
STKc_YSK4	cd06631	4.9e-07	483	770
STKc_SLK	cd06643	4.8e-06	483	778
PTKc_EphR	cd05033	2.5e-73	484	774
PTKc_Jak_rpt2	cd05038	9.2e-73	484	774
PTKc_Jak1_rpt2	cd05079	9.8e-35	484	774
PTKc_Tyk2_rpt2	cd05080	3.4e-28	484	775
PTKc_Jak2_Jak3_rpt2	cd05081	2.3e-36	484	774
PTKc_Tie2	cd05088	7.1e-54	484	783
PTKc_HER2	cd05109	4.5e-32	484	783
PTK_HER3	cd05111	2.9e-28	484	783
PTKc_Itk	cd05112	1.1e-58	484	771
PTKc_Tec_Rlk	cd05114	6.5e-48	484	771
PTKc_Btk_Bmx	cd05113	1.5e-54	484	771
PKc_MKK4	cd06616	0.0005	484	783
STKc_CDK12	cd07864	6.9e-07	484	783
STKc_MST1_2	cd06612	9e-10	485	764
STKc_MAP4K3_like	cd06613	9.9e-10	485	769
STKc_MST4	cd06640	1.4e-05	485	783
STKc_MST3	cd06641	2.5e-06	485	783
STKc_STK25-YSK1	cd06642	1.4e-06	485	781
STKc_PCTAIRE_like	cd07844	0.00031	485	780
STKc_CDK9	cd07865	0.00013	485	763
STKc_BUR1	cd07866	0.00016	486	763
STKc_Nek6_Nek7	cd08224	3.5e-06	486	775
PTKc_Tie1	cd05089	3.2e-52	487	783
STKc_phototropin_lik	cd05574	0.00011	487	781
STKc_PDK1	cd05581	6.5e-11	487	770
PKc_MAPKK	cd06605	3.6e-06	487	768
STKc_OSR1_SPAK	cd06610	5.3e-08	487	763
PKc_MEK	cd06615	0.00012	487	781
PKc_MAPKK_Byr1_like	cd06620	0.0002	487	777
PKc_MAPKK_Pek1_like	cd06621	9.4e-06	487	774
STKc_MEKK3_like	cd06625	1.4e-07	487	772
PKc_MAPKK_plant_like	cd06623	6.4e-11	487	776
STKc_CDKL	cd07833	7.5e-06	487	763
STKc_CdkB_plant	cd07837	1.8e-06	487	771
STKc_CDC2L1	cd07843	2.7e-05	487	763
STKc_CDK10	cd07845	5.4e-08	487	764
STKc_CDKL2_3	cd07846	4.2e-05	487	770
STKc_CDKL1_4	cd07847	0.00014	487	770
STKc_CDK6	cd07862	0.00012	487	782
STKc_PCTAIRE3	cd07871	0.00039	487	780
STKc_Nek6	cd08228	4.5e-06	487	775
STKc_Nek7	cd08229	7.7e-08	487	775
PTKc_RET	cd05045	1.5e-69	488	777
STKc_Yank1	cd05578	0.00044	488	770
STKc_MAPKKK	cd06606	9e-17	488	770
STKc_CCRK	cd07832	2.5e-09	488	764
STKc_Pho85	cd07836	0.00016	488	783
STKc_CDK5	cd07839	2.9e-05	488	770
STKc_CDK7	cd07841	6e-09	488	770
STKc_CDK8_like	cd07842	6.1e-06	488	775
STKc_CDK4	cd07863	5.1e-06	488	783
STKc_CDK2_3	cd07860	0.00069	488	780
STKc_MPK1	cd07857	0.00059	488	783
STKc_Nek	cd08215	2.8e-13	488	772
STKc_Nek1	cd08218	5.8e-05	488	770
STKc_Nek3	cd08219	4e-09	488	775
STKc_Nek8	cd08220	8.2e-05	488	770
STKc_Nek5	cd08225	9.6e-06	488	770
STKc_Nek4	cd08223	5.8e-06	488	769
STKc_Nek9	cd08221	0.00023	488	770
STKc_Nek10	cd08528	0.00067	488	772
STKc_FA2-like	cd08529	1.7e-06	488	766
STKc_CNK2-like	cd08530	1.2e-06	488	770
PTKc_Axl_like	cd05035	2.7e-70	489	774
PTKc_Tyro3	cd05074	2.4e-66	489	774
PTKc_Axl	cd05075	1.6e-58	489	774
STKc_MST3_like	cd06609	9e-08	489	781
STKc_MAPKKK_Bck1_lik	cd06629	4.9e-09	489	764
STKc_CDK1_like	cd07835	5.6e-06	489	783
STKc_CMGC	cd05118	3.2e-09	490	770
PKc_STE	cd05122	4.4e-12	490	763
STKc_Cdc7_like	cd06627	9.2e-12	490	770
STKc_MAPKKK_Byr2_lik	cd06628	3.1e-08	490	770
STKc_CDK_like	cd07829	2.1e-11	490	780
STKc_MAK_like	cd07830	3e-06	490	763
STKc_CDK4_6_like	cd07838	7.3e-07	490	763
STKc_CDK9_like	cd07840	2.8e-07	490	763
STKc_MAPK15	cd07852	0.00086	490	774
STKc_Nek2	cd08217	1.7e-07	490	770
STKc_Nek11	cd08222	7e-07	490	772
STKc_MOK	cd07831	0.00012	491	763
PTKc	cd00192	3.8e-146	493	771
PTK_Jak_rpt1	cd05037	3.7e-11	493	771
PTKc_Ack_like	cd05040	1.2e-55	493	772
PTKc_Aatyk	cd05042	5.6e-23	493	772
PTKc_c-ros	cd05044	2.5e-80	493	772
PTKc_Fes_like	cd05041	1.2e-58	493	772
PTKc_Met_Ron	cd05058	1.6e-60	493	776
PTKc_Syk_like	cd05060	2.2e-65	493	775
PTK_Jak1_rpt1	cd05077	5.6e-07	493	771
PTK_Jak2_Jak3_rpt1	cd05078	6.7e-11	493	771
PTKc_Fes	cd05084	5.1e-62	493	772
PTKc_Aatyk2	cd05086	1.6e-28	493	772
PTKc_Aatyk1_Aatyk3	cd05087	9.3e-32	493	772
PTKc_Syk	cd05116	2.5e-56	493	775
STKc_MEKK4	cd06626	1.7e-05	493	764
PTKc_Zap-70	cd05115	2.3e-53	494	776
PKc	cd00180	2.2e-57	495	770
PTKc_Tie	cd05047	2.5e-65	495	775
PTKc_Fer	cd05085	8.7e-62	495	772
STKc_AGC	cd05123	2.2e-09	495	770
STKc_cGK_PKG	cd05572	8.5e-06	495	777
STKc_MAST_like	cd05579	9.2e-07	495	768
STKc_MEKK1	cd06630	5.5e-06	495	764
STKc_MEKK1_plant	cd06632	3.5e-08	495	764
STKc_NAK1_like	cd06917	8.6e-06	495	778
ig	pfam00047	0.00055	42	101
ig	pfam00047	2.5e-09	135	192
ig	pfam00047	9.6e-05	236	294
Fz	pfam01392	7.8e-05	243	374
Pkinase	pfam00069	9.1e-32	489	773
I-set	pfam07679	1e-14	28	117
IG	smart00409	1.6e-12	34	118
IG_like	smart00410	1.6e-12	34	118
IGc2	smart00408	1.9e-09	41	106
I-set	pfam07679	5.4e-33	121	208
IG	smart00409	4.2e-19	127	209
IG_like	smart00410	4.2e-19	127	209
V-set	pfam07686	0.00027	129	208
IGc2	smart00408	1.8e-16	134	197
I-set	pfam07679	7.1e-06	222	309
IG	smart00409	4.6e-05	228	310
IG_like	smart00410	4.6e-05	228	310
IGc2	smart00408	1.7e-05	235	299
Pkinase_Tyr	pfam07714	5.3e-150	489	770
STYKc	smart00221	3.6e-49	489	772
TyrKc	smart00219	7e-142	489	770
S_TKc	smart00220	1e-38	499	773

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs12348614	Polymorphism	p.GLU211ASP	N/A
dbSNP	rs2274419	Polymorphism	p.MET335ILE	N/A
dbSNP	rs35176182	Polymorphism	p.SER159GLY	N/A
dbSNP	rs578430	Polymorphism	p.VAL743LEU	N/A
OMIM	601296.0005	Disease	p.ALA641VAL	MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR\|\|DEFICIENCY
OMIM	601296.0004	Disease	p.MET519ILE	MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR\|\|DEFICIENCY
OMIM	601296.0001	Disease	p.VAL704MET	MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR\|\|DEFICIENCY

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