Results for the protein: NP

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
C2C_Tricalbin-like	cd04045	9.4e-06	1	114
C2_Smurf-like	cd08382	4.9e-05	1	122
C2B_Synaptotagmin-7	cd08405	0.00014	1	120
C2A_SLP	cd08521	0.00011	1	103
C2	cd00030	6.2e-21	2	105
C2B_Synaptotagmin	cd00276	0.00035	2	97
C2B_Munc13-like	cd04009	6.8e-07	2	107
C2_plant_PLD	cd04015	0.00041	2	124
C2C_KIAA1228	cd04030	2.7e-06	2	104
C2A_Rabphilin_Doc2	cd04035	8.8e-07	2	105
C2A_Ferlin	cd08373	1.6e-50	10	135
C2B_Ferlin	cd04011	6.3e-68	248	357
C2	cd00030	4.7e-11	253	354
C2C_Ferlin	cd04018	1.3e-107	411	585
C2	cd00030	1.1e-12	412	529
C2D_Tricalbin-like	cd04040	0.00025	412	547
C2A_fungal	cd04041	0.00023	412	528
C2A_Synaptotagmin-8	cd08387	0.00055	1169	1297
C2_PKC_alpha_gamma	cd04026	9.4e-06	1170	1305
C2A_RIM1alpha	cd04031	3e-05	1172	1292
C2D_Ferlin	cd04017	7.3e-80	1183	1311
C2C_MCTP_PRT	cd08377	0.00038	1183	1308
C2B_RasA1_RasA4	cd04025	2e-09	1184	1310
C2A_MCTP_PRT	cd04042	0.00031	1184	1309
C2	cd00030	3.9e-24	1185	1291
C2A_Synaptotagmin-li	cd04024	4.3e-07	1185	1307
C2_ArfGAP	cd04038	7.9e-06	1185	1336
C2A_C2C_Synaptotagmi	cd08391	5e-07	1185	1307
C2B_RasGAP	cd08675	2e-07	1185	1305
C2_KIAA0528-like	cd08688	1.3e-05	1185	1292
C2_Calpain	cd04046	0.00031	1188	1314
C2B_Synaptotagmin-1	cd08402	0.00038	1606	1728
C2E_Ferlin	cd04037	3.6e-84	1610	1733
C2B_MCTP_PRT	cd08376	4.8e-05	1610	1719
C2	cd00030	3.9e-18	1611	1717
C2F_Ferlin	cd08374	7.4e-85	1843	1975
C2	cd00030	2.5e-11	1844	1975
C2	pfam00168	9.2e-23	2	85
C2	pfam00168	1.5e-12	253	333
C2	pfam00168	1.5e-19	412	510
C2	pfam00168	7.5e-23	1185	1275
C2	pfam00168	3.8e-20	1611	1694
C2	smart00239	2.2e-22	1	100
C2	smart00239	2.6e-16	252	348
FerI	pfam08151	9.1e-45	334	405
C2	smart00239	1.4e-19	411	525
FerA	pfam08165	3e-25	725	790
FerB	pfam08150	7.3e-56	817	892
DysFN	smart00693	2.6e-22	905	964
DysFN	smart00693	1.5e-21	977	1033
DysFC	smart00694	2.8e-15	1042	1080
DysFC	smart00694	2.4e-12	1099	1132
C2	smart00239	1.4e-23	1184	1289
C2	smart00239	3.1e-20	1610	1709
C2	smart00239	5e-23	1843	1972

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs34660230	Polymorphism	p.ALA1103PRO	N/A
dbSNP	rs115279465	Polymorphism	p.ALA381VAL	N/A
dbSNP	rs34211915	Polymorphism	p.ARG1053GLN	N/A
dbSNP	rs61738567	Polymorphism	p.ASP1490GLY	N/A
dbSNP	rs34671418	Polymorphism	p.ILE865VAL	N/A
dbSNP	rs13407355	Polymorphism	p.LEU220VAL	N/A
OMIM	603009.0004	Disease	p.ARG2034CYS	MIYOSHI MYOPATHY\|\|MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B, INCLUDED
OMIM	603009.0011	Disease	p.ARG1059HIS	MIYOSHI MYOPATHY
OMIM	603009.0012	Disease	p.ARG1897TER	MIYOSHI MYOPATHY\|\|MYOPATHY, DISTAL, WITH ANTERIOR TIBIAL ONSET, INCLUDED;;\|\|MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B, IN
OMIM	603009.0013	Disease	p.ASP638TYR	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
OMIM	603009.0001	Disease	p.GLN618TER	MIYOSHI MYOPATHY
OMIM	603009.0014	Disease	p.GLU1726GLY	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
OMIM	603009.0017	Disease	p.GLY298ARG	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
OMIM	603009.0015	Disease	p.GLY518ARG	MIYOSHI MYOPATHY
OMIM	603009.0018	Disease	p.GLY298TRP	MIYOSHI MYOPATHY
OMIM	603009.0003	Disease	p.ILE1311VAL	MIYOSHI MYOPATHY\|\|MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B, INCLUDED
OMIM	603009.0007	Disease	p.PRO804ARG	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B\|\|MIYOSHI MYOPATHY, INCLUDED
OMIM	603009.0010	Disease	p.TRP1012CYS	MIYOSHI MYOPATHY
OMIM	603009.0009	Disease	p.VAL66ASP	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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