Results for the protein: NP

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
C2B_Synaptotagmin-li	cd04050	1e-06	1	111
C2B_Synaptotagmin-7	cd08405	6.5e-05	1	121
C2_Smurf-like	cd08382	5e-06	1	123
C2	cd00030	6.8e-22	2	106
C2_PLC_like	cd00275	0.00018	2	125
C2B_Synaptotagmin	cd00276	4.3e-05	2	98
C2A_Rabphilin_Doc2	cd04035	8.8e-08	2	106
C2A_Synaptotagmin-li	cd04024	5.6e-06	2	124
C2D_Tricalbin-like	cd04040	3e-05	2	120
C2A_SLP	cd08521	0.00018	2	104
C2B_RasGAP	cd08675	3.9e-07	2	118
C2B_RasA3	cd04010	0.00055	4	123
C2C_KIAA1228	cd04030	2.8e-06	4	105
C2_E3_ubiquitin_liga	cd04021	0.0001	5	123
C2C_Tricalbin-like	cd04045	4.5e-05	5	115
C2A_Ferlin	cd08373	2.6e-65	5	136
C2_C21orf25-like	cd08678	0.00099	5	131
C2A_MCTP_PRT_plant	cd04022	3.2e-05	7	126
C2_putative_Elicitor	cd04049	0.00037	12	124
C2B_Ferlin	cd04011	6.3e-68	249	358
C2	cd00030	4.7e-11	254	355
C2C_Ferlin	cd04018	1.3e-107	412	586
C2	cd00030	1.1e-12	413	530
C2A_fungal	cd04041	0.00023	413	529
C2A_Synaptotagmin-8	cd08387	0.00055	1170	1298
C2_PKC_alpha_gamma	cd04026	9.4e-06	1171	1306
C2A_RIM1alpha	cd04031	3e-05	1173	1293
C2D_Ferlin	cd04017	7.3e-80	1184	1312
C2C_MCTP_PRT	cd08377	0.00038	1184	1309
C2B_RasA1_RasA4	cd04025	2e-09	1185	1311
C2A_MCTP_PRT	cd04042	0.00031	1185	1310
C2	cd00030	3.9e-24	1186	1292
C2A_Synaptotagmin-li	cd04024	4.3e-07	1186	1308
C2_ArfGAP	cd04038	7.9e-06	1186	1337
C2A_C2C_Synaptotagmi	cd08391	5e-07	1186	1308
C2B_RasGAP	cd08675	2e-07	1186	1306
C2_KIAA0528-like	cd08688	1.3e-05	1186	1293
C2_Calpain	cd04046	0.00031	1189	1315
C2B_Munc13-like	cd04009	1.7e-06	1605	1714
C2B_Synaptotagmin-1	cd08402	0.00038	1607	1729
C2E_Ferlin	cd04037	3.6e-84	1611	1734
C2B_MCTP_PRT	cd08376	4.8e-05	1611	1720
C2	cd00030	3.9e-18	1612	1718
C2F_Ferlin	cd08374	7.4e-85	1844	1976
C2	cd00030	2.5e-11	1845	1976
C2	pfam00168	3.3e-23	2	86
C2	pfam00168	1.5e-12	254	334
C2	pfam00168	1.5e-19	413	511
C2	pfam00168	7.5e-23	1186	1276
C2	pfam00168	3.8e-20	1612	1695
C2	smart00239	1.7e-22	1	101
C2	smart00239	2.6e-16	253	349
FerI	pfam08151	9.1e-45	335	406
C2	smart00239	1.4e-19	412	526
FerA	pfam08165	3e-25	726	791
FerB	pfam08150	7.3e-56	818	893
DysFN	smart00693	2.6e-22	906	965
DysFN	smart00693	1.5e-21	978	1034
DysFC	smart00694	2.8e-15	1043	1081
DysFC	smart00694	2.4e-12	1100	1133
C2	smart00239	1.4e-23	1185	1290
C2	smart00239	3.1e-20	1611	1710
C2	smart00239	5e-23	1844	1973

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs34660230	Polymorphism	p.ALA1104PRO	N/A
dbSNP	rs115279465	Polymorphism	p.ALA382VAL	N/A
dbSNP	rs34211915	Polymorphism	p.ARG1054GLN	N/A
dbSNP	rs61738567	Polymorphism	p.ASP1491GLY	N/A
dbSNP	rs34671418	Polymorphism	p.ILE866VAL	N/A
dbSNP	rs13407355	Polymorphism	p.LEU221VAL	N/A
OMIM	603009.0004	Disease	p.ARG2035CYS	MIYOSHI MYOPATHY\|\|MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B, INCLUDED
OMIM	603009.0011	Disease	p.ARG1060HIS	MIYOSHI MYOPATHY
OMIM	603009.0012	Disease	p.ARG1898TER	MIYOSHI MYOPATHY\|\|MYOPATHY, DISTAL, WITH ANTERIOR TIBIAL ONSET, INCLUDED;;\|\|MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B, IN
OMIM	603009.0013	Disease	p.ASP639TYR	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
OMIM	603009.0001	Disease	p.GLN619TER	MIYOSHI MYOPATHY
OMIM	603009.0014	Disease	p.GLU1727GLY	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
OMIM	603009.0017	Disease	p.GLY299ARG	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
OMIM	603009.0015	Disease	p.GLY519ARG	MIYOSHI MYOPATHY
OMIM	603009.0018	Disease	p.GLY299TRP	MIYOSHI MYOPATHY
OMIM	603009.0003	Disease	p.ILE1312VAL	MIYOSHI MYOPATHY\|\|MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B, INCLUDED
OMIM	603009.0007	Disease	p.PRO805ARG	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B\|\|MIYOSHI MYOPATHY, INCLUDED
OMIM	603009.0010	Disease	p.TRP1013CYS	MIYOSHI MYOPATHY
OMIM	603009.0009	Disease	p.VAL67ASP	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B

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.

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