Results for the protein: O15146

Results for the Protein: O15146

50400806

4593

MUSK

NCBI, UniProt

MUSK_HUMAN RecName: Full=Muscle, skeletal receptor tyrosine-protein kinase; AltName: Full=Muscle-specific tyrosine-protein kinase receptor; Short=MuSK; Short=Muscle-specific kinase receptor; Flags: Precursor

Known Diseases associated with this Protein:
  DEFICIENCY
  MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR
  MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY (CMS-ACHRD)

7

14

4

3

14

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: O15146

Identical to: NP_005583

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_Robo	cd05724	5.4e-08	35	117
Ig2_FGFR_like	cd05729	0.00051	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
Ig3_Robo	cd05725	9.2e-08	45	117
Ig2_Follistatin_like	cd05736	0.00031	45	120
Ig2_RPTP_IIa_LAR_lik	cd05738	0.00039	45	118
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
Ig_M-protein_C	cd05891	1.2e-06	123	210
Ig1_Neogenin	cd05722	1.8e-05	124	208
Ig4_Contactin-2-like	cd05728	7e-07	124	208
Ig2_Robo	cd05724	1.7e-16	125	208
Ig3_NCAM-1_like	cd05730	1.6e-05	125	213
Ig2_IL1R_like	cd05757	0.00011	126	210
Ig_Myomesin_like_C	cd05737	4e-06	130	210
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
Ig4_Robo	cd05726	3e-08	135	218
Ig_2	cd05764	3.7e-06	135	208
Ig5_Contactin-1	cd05852	1.5e-13	135	208
Ig4_Neogenin	cd05723	0.00017	137	208
Ig_Titin_like	cd05748	0.00038	137	210
Ig	cd00096	1.2e-16	138	204
Ig3_Robo	cd05725	1e-06	138	208
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	0.00041	138	207
Ig2_RPTP_IIa_LAR_lik	cd05738	2.7e-16	138	209
Ig_Myotilin_C_like	cd05744	0.00093	138	208
Ig_Pro_neuregulin	cd05750	0.00015	138	203
Ig_1	cd05763	2.1e-05	138	209
Ig4_Peroxidasin	cd05746	2.9e-11	138	206
Ig6_hNeurofascin_lik	cd05875	0.00081	138	207
Ig3_L1-CAM	cd05876	2.3e-06	138	205
Ig3_Contactin_like	cd04968	0.00018	212	302
Ig2_FGFRL1-like	cd05856	2.7e-05	212	299
Ig2_Robo	cd05724	3.4e-06	216	303
Ig2_FGFR_like	cd05729	1.4e-05	218	299
Ig4_L1-NrCAM_like	cd04978	6e-05	226	304
Ig_Perlecan_D2_like	cd05743	0.00068	226	301
Ig	cd00096	2.3e-07	229	296
Ig4_Neogenin	cd05723	0.00011	229	303
CRD_TK_ROR_related	cd07469	9e-89	313	457
CRD_TK_ROR_like	cd07459	1.9e-39	315	453
CRD_FZ	cd07066	0.00026	316	446
PTKc_PDGFR_beta	cd05107	3.3e-24	538	861
PTKc_Kit	cd05104	3.6e-45	544	860
PTKc_CSF-1R	cd05106	5.9e-53	544	861
PTKc_PDGFR_alpha	cd05105	1.7e-26	544	862
STKc_TAO1	cd06635	0.00022	552	869
STKc_myosinIIIB	cd06639	1.6e-05	553	857
STKc_PAK6	cd06659	0.00019	553	869
PTKc_PDGFR	cd05055	2.6e-41	554	860
STKc_PAK	cd06614	4.7e-13	554	869
STKc_PAK_II	cd06648	1.7e-06	556	869
STKc_myosinIIIA	cd06638	0.00023	557	856
PTKc_FGFR3	cd05100	1.8e-50	559	869
PKc_MKK7	cd06618	1.4e-05	560	862
PTKc_Tec_like	cd05059	3.4e-51	561	857
STKc_TAO	cd06607	0.00048	562	868
STKc_TAO2	cd06634	0.00012	562	868
STKc_STK10_LOK	cd06644	3.6e-05	562	867
PTKc_FGFR	cd05053	6.8e-75	563	861
PTKc_FGFR1	cd05098	8.4e-63	563	864
PTKc_FGFR4	cd05099	4.4e-71	563	868
PTKc_FGFR2	cd05101	9.3e-62	563	867
PTKc_Chk	cd05083	1.1e-52	565	859
PTKc_EGFR	cd05108	1.6e-21	565	868
PTKc_HER4	cd05110	4.3e-19	565	865
STKc_ASK	cd06624	3.5e-06	566	856
STKc_MAP4K3	cd06645	2.5e-06	566	860
STKc_MAP4K5	cd06646	8.9e-06	566	860
PTKc_VEGFR	cd05054	5.5e-44	567	863
PTKc_EGFR_like	cd05057	1.5e-53	567	867
PTKc_VEGFR3	cd05102	8.6e-55	567	863
PTKc_VEGFR2	cd05103	3.2e-42	567	863
PTKc_InsR_like	cd05032	1.1e-102	568	858
PTKc_Src_like	cd05034	6.6e-69	568	859
PTKc_Csk_like	cd05039	5.8e-42	568	859
PTK_Ryk	cd05043	3e-26	568	856
PTKc_Abl	cd05052	2.4e-75	568	860
PTKc_ALK_LTK	cd05036	1.6e-83	568	858
PTKc_FAK	cd05056	8.6e-76	568	864
PTKc_InsR	cd05061	8.6e-78	568	869
PTKc_IGF-1R	cd05062	1.5e-81	568	858
PTKc_EphR_B	cd05065	4.4e-59	568	860
PTKc_EphR_A	cd05066	2.1e-66	568	860
PTKc_Lck_Blk	cd05067	1.5e-52	568	859
PTKc_Frk_like	cd05068	1.3e-73	568	859
PTKc_Yes	cd05069	1.7e-41	568	859
PTKc_Fyn_Yrk	cd05070	5e-44	568	859
PTKc_Src	cd05071	1.2e-40	568	861
PTKc_Lyn	cd05072	1.4e-53	568	859
PTKc_Hck	cd05073	1.3e-52	568	859
PTKc_Csk	cd05082	5.4e-44	568	859
STKc_myosinIII_like	cd06608	7e-05	568	856
PTK_CCK4	cd05046	1.4e-77	569	858
PTKc_Ror	cd05048	1.1e-130	569	859
PTKc_Trk	cd05049	2.8e-134	569	858
PTKc_DDR	cd05051	1.3e-90	569	858
PTKc_Musk	cd05050	2.1e-243	569	858
PTKc_EphR_A2	cd05063	9.5e-55	569	860
PTKc_EphR_A10	cd05064	2.3e-55	569	860
PTK_Tyk2_rpt1	cd05076	0.00023	569	857
PTKc_Ror2	cd05091	1.7e-87	569	859
PTKc_TrkA	cd05092	2.9e-103	569	858
PTKc_TrkB	cd05093	8.5e-101	569	868
PTKc_TrkC	cd05094	7.9e-77	569	868
PTKc_DDR2	cd05095	4.5e-83	569	858
PTKc_Ror1	cd05090	6.3e-105	569	859
PTKc_Srm_Brk	cd05148	1e-56	569	859
PTKc_DDR_like	cd05097	8.8e-82	569	858
PTKc_DDR1	cd05096	1.5e-72	569	858
STKc_SLK_like	cd06611	1.1e-06	569	861
STKc_YSK4	cd06631	4.9e-07	569	856
STKc_SLK	cd06643	4.8e-06	569	864
PTKc_EphR	cd05033	2.5e-73	570	860
PTKc_Jak_rpt2	cd05038	9.2e-73	570	860
PTKc_Jak1_rpt2	cd05079	9.8e-35	570	860
PTKc_Tyk2_rpt2	cd05080	3.4e-28	570	861
PTKc_Jak2_Jak3_rpt2	cd05081	2.3e-36	570	860
PTKc_Tie2	cd05088	7.1e-54	570	869
PTK_HER3	cd05111	2.9e-28	570	869
PTKc_Itk	cd05112	1.1e-58	570	857
PTKc_Btk_Bmx	cd05113	1.5e-54	570	857
PTKc_Tec_Rlk	cd05114	6.5e-48	570	857
PTKc_HER2	cd05109	4.5e-32	570	869
PKc_MKK4	cd06616	0.0005	570	869
STKc_CDK12	cd07864	6.9e-07	570	869
STKc_MST1_2	cd06612	9e-10	571	850
STKc_MAP4K3_like	cd06613	9.9e-10	571	855
STKc_MST4	cd06640	1.4e-05	571	869
STKc_STK25-YSK1	cd06642	1.4e-06	571	867
STKc_MST3	cd06641	2.5e-06	571	869
STKc_PCTAIRE_like	cd07844	0.00031	571	866
STKc_CDK9	cd07865	0.00013	571	849
STKc_BUR1	cd07866	0.00016	572	849
STKc_Nek6_Nek7	cd08224	3.5e-06	572	861
PTKc_Tie1	cd05089	3.2e-52	573	869
STKc_phototropin_lik	cd05574	0.00011	573	867
STKc_PDK1	cd05581	6.5e-11	573	856
PKc_MAPKK	cd06605	3.6e-06	573	854
STKc_OSR1_SPAK	cd06610	5.3e-08	573	849
PKc_MEK	cd06615	0.00012	573	867
PKc_MAPKK_Byr1_like	cd06620	0.0002	573	863
PKc_MAPKK_plant_like	cd06623	6.4e-11	573	862
STKc_MEKK3_like	cd06625	1.4e-07	573	858
PKc_MAPKK_Pek1_like	cd06621	9.4e-06	573	860
STKc_CDKL	cd07833	7.5e-06	573	849
STKc_CdkB_plant	cd07837	1.8e-06	573	857
STKc_CDC2L1	cd07843	2.7e-05	573	849
STKc_CDK10	cd07845	5.4e-08	573	850
STKc_CDKL1_4	cd07847	0.00014	573	856
STKc_CDKL2_3	cd07846	4.2e-05	573	856
STKc_PCTAIRE3	cd07871	0.00039	573	866
STKc_CDK6	cd07862	0.00012	573	868
STKc_Nek6	cd08228	4.5e-06	573	861
STKc_Nek7	cd08229	7.7e-08	573	861
PTKc_RET	cd05045	1.5e-69	574	863
STKc_Yank1	cd05578	0.00044	574	856
STKc_MAPKKK	cd06606	9e-17	574	856
STKc_Pho85	cd07836	0.00016	574	869
STKc_CDK5	cd07839	2.9e-05	574	856
STKc_CCRK	cd07832	2.5e-09	574	850
STKc_CDK8_like	cd07842	6.1e-06	574	861
STKc_MPK1	cd07857	0.00059	574	869
STKc_CDK7	cd07841	6e-09	574	856
STKc_CDK2_3	cd07860	0.00069	574	866
STKc_CDK4	cd07863	5.1e-06	574	869
STKc_Nek	cd08215	2.8e-13	574	858
STKc_Nek1	cd08218	5.8e-05	574	856
STKc_Nek3	cd08219	4e-09	574	861
STKc_Nek8	cd08220	8.2e-05	574	856
STKc_Nek9	cd08221	0.00023	574	856
STKc_Nek4	cd08223	5.8e-06	574	855
STKc_Nek5	cd08225	9.6e-06	574	856
STKc_Nek10	cd08528	0.00067	574	858
STKc_FA2-like	cd08529	1.7e-06	574	852
STKc_CNK2-like	cd08530	1.2e-06	574	856
PTKc_Axl_like	cd05035	2.7e-70	575	860
PTKc_Tyro3	cd05074	2.4e-66	575	860
PTKc_Axl	cd05075	1.6e-58	575	860
STKc_MST3_like	cd06609	9e-08	575	867
STKc_MAPKKK_Bck1_lik	cd06629	4.9e-09	575	850
STKc_CDK1_like	cd07835	5.6e-06	575	869
STKc_CMGC	cd05118	3.2e-09	576	856
PKc_STE	cd05122	4.4e-12	576	849
STKc_Cdc7_like	cd06627	9.2e-12	576	856
STKc_MAPKKK_Byr2_lik	cd06628	3.1e-08	576	856
STKc_CDK_like	cd07829	2.1e-11	576	866
STKc_MAK_like	cd07830	3e-06	576	849
STKc_CDK4_6_like	cd07838	7.3e-07	576	849
STKc_CDK9_like	cd07840	2.8e-07	576	849
STKc_MAPK15	cd07852	0.00086	576	860
STKc_Nek2	cd08217	1.7e-07	576	856
STKc_Nek11	cd08222	7e-07	576	858
STKc_MOK	cd07831	0.00012	577	849
PTKc	cd00192	3.8e-146	579	857
PTK_Jak_rpt1	cd05037	3.7e-11	579	857
PTKc_Ack_like	cd05040	1.2e-55	579	858
PTKc_Fes_like	cd05041	1.2e-58	579	858
PTKc_Aatyk	cd05042	5.6e-23	579	858
PTKc_c-ros	cd05044	2.5e-80	579	858
PTKc_Met_Ron	cd05058	1.6e-60	579	862
PTKc_Syk_like	cd05060	2.2e-65	579	861
PTK_Jak2_Jak3_rpt1	cd05078	6.7e-11	579	857
PTKc_Fes	cd05084	5.1e-62	579	858
PTKc_Aatyk2	cd05086	1.6e-28	579	858
PTK_Jak1_rpt1	cd05077	5.6e-07	579	857
PTKc_Syk	cd05116	2.5e-56	579	861
PTKc_Aatyk1_Aatyk3	cd05087	9.3e-32	579	858
STKc_MEKK4	cd06626	1.7e-05	579	850
PTKc_Zap-70	cd05115	2.3e-53	580	862
PKc	cd00180	2.2e-57	581	856
PTKc_Tie	cd05047	2.5e-65	581	861
PTKc_Fer	cd05085	8.7e-62	581	858
STKc_AGC	cd05123	2.2e-09	581	856
STKc_cGK_PKG	cd05572	8.5e-06	581	863
STKc_MAST_like	cd05579	9.2e-07	581	854
STKc_MEKK1_plant	cd06632	3.5e-08	581	850
STKc_MEKK1	cd06630	5.5e-06	581	850
STKc_NAK1_like	cd06917	8.6e-06	581	864
ig	pfam00047	0.00055	42	101
ig	pfam00047	2.5e-09	135	192
ig	pfam00047	9.6e-05	226	284
Fz	pfam01392	3.2e-46	317	452
Pkinase	pfam00069	9.1e-32	575	859
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	212	299
IG	smart00409	4.6e-05	218	300
IG_like	smart00410	4.6e-05	218	300
IGc2	smart00408	1.7e-05	225	289
Pkinase_Tyr	pfam07714	5.3e-150	575	856
TyrKc	smart00219	7e-142	575	856
STYKc	smart00221	3.6e-49	575	858
S_TKc	smart00220	1e-38	585	859

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_041748	Polymorphism	p.ALA27GLY	N/A
Swiss-Prot	VAR_066605	Disease	p.ALA727VAL	Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency (CMS-ACHRD)
Swiss-Prot	VAR_041759	Polymorphism	p.ARG858HIS	N/A
Swiss-Prot	VAR_041752	Polymorphism	p.ASN222SER	N/A
Swiss-Prot	VAR_041755	Polymorphism	p.ASN664SER	N/A
Swiss-Prot	VAR_041758	Polymorphism	p.ASN819SER	N/A
Swiss-Prot	VAR_041757	Polymorphism	p.GLU782ASP	N/A
Swiss-Prot	VAR_041750	Polymorphism	p.GLY107GLU	N/A
Swiss-Prot	VAR_041753	Polymorphism	p.LEU629PHE	N/A
dbSNP	rs2274419	Polymorphism	p.MET413ILE	N/A
Swiss-Prot	VAR_066604	Disease	p.MET605ILE	Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency (CMS-ACHRD)
Swiss-Prot	VAR_041756	Polymorphism	p.PRO696LEU	N/A
dbSNP	rs35176182	Polymorphism	p.SER159GLY	N/A
Swiss-Prot	VAR_041749	Polymorphism	p.THR100MET	N/A
Swiss-Prot	VAR_041754	Polymorphism	p.VAL644ALA	N/A
dbSNP	rs578430	Polymorphism	p.VAL829LEU	N/A
Swiss-Prot	VAR_023046	Disease	p.VAL790MET	Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency (CMS-ACHRD)
OMIM	601296.0005	Disease	p.ALA727VAL	MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR\|\|DEFICIENCY
OMIM	601296.0004	Disease	p.MET605ILE	MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR\|\|DEFICIENCY
OMIM	601296.0003	Disease	p.PRO344ARG	MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR\|\|DEFICIENCY
OMIM	601296.0001	Disease	p.VAL790MET	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