Results for the protein: NP

Results for the Protein: NP_579899

19718759

26509

MYOF

NCBI

myoferlin isoform b [Homo sapiens]

			0 5 0 5 0

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RefSeq Protein: NP_579899

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Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
C2C_Tricalbin-like	cd04045	6.5e-05	1	111
C2B_Synaptotagmin-li	cd04050	0.00015	1	108
C2B_Copine	cd04047	0.00058	1	105
C2B_Synaptotagmin-7	cd08405	8.7e-05	1	104
C2	cd00030	2.2e-20	2	103
C2B_Synaptotagmin	cd00276	0.00072	2	103
C2_PLC_like	cd00275	9.3e-05	2	121
C2_E3_ubiquitin_liga	cd04021	9.7e-05	2	125
C2C_KIAA1228	cd04030	7.2e-05	2	104
C2A_Ferlin	cd08373	8.4e-60	5	136
C2B_Ferlin	cd04011	1.5e-71	196	305
C2	cd00030	5.4e-14	201	302
C2C_MCTP_PRT	cd08377	0.00027	358	464
C2C_Ferlin	cd04018	1.1e-102	359	522
C2	cd00030	1.8e-17	360	475
C2_PKC_alpha_gamma	cd04026	8.1e-05	363	484
C2_KIAA0528-like	cd08688	0.0004	379	488
C2_Munc13_fungal	cd04043	0.00025	380	480
C2A_Tricalbin-like	cd04044	0.00072	380	484
C2D_Tricalbin-like	cd04040	4.1e-06	383	484
C2_ArfGAP	cd04038	3.9e-05	392	502
C2A_Synaptotagmin-8	cd08387	4.8e-05	1112	1242
C2_Intersectin	cd08375	0.00063	1113	1257
C2D_Ferlin	cd04017	1.9e-85	1126	1260
C2B_RasA1_RasA4	cd04025	1.2e-07	1127	1259
C2	cd00030	2e-19	1128	1240
C2A_C2C_Synaptotagmi	cd08391	1.6e-05	1128	1256
C2B_RasGAP	cd08675	7.3e-05	1128	1236
C2A_Synaptotagmin-1-	cd08385	2.4e-05	1528	1644
C2A_Rabphilin_Doc2	cd04035	3.2e-05	1529	1633
C2B_Synaptotagmin-1	cd08402	0.00017	1536	1659
C2A_fungal	cd04041	0.00016	1540	1636
C2B_Munc13-like	cd04009	0.00026	1541	1644
C2E_Ferlin	cd04037	2e-77	1541	1664
C2B_MCTP_PRT	cd08376	5.5e-05	1541	1650
C2	cd00030	4.4e-18	1542	1648
C2A_Synaptotagmin-li	cd04024	8.4e-05	1543	1658
C2F_Ferlin	cd08374	4.4e-84	1776	1908
C2	cd00030	1.1e-11	1777	1908
C2	pfam00168	3.7e-20	2	85
C2	pfam00168	1.1e-12	201	281
C2	pfam00168	2.2e-22	360	458
C2	pfam00168	3.9e-20	1128	1218
C2	pfam00168	0.00099	1290	1380
C2	pfam00168	4.3e-20	1542	1625
C2	smart00239	4.9e-17	1	100
C2	smart00239	1.7e-13	200	296
FerI	pfam08151	1.6e-47	282	353
C2	smart00239	1e-19	359	473
FerA	pfam08165	2.9e-34	663	728
FerB	pfam08150	8.4e-57	755	830
DysFN	smart00693	1.5e-23	843	901
DysFN	smart00693	7.7e-22	914	970
DysFC	smart00694	8.7e-15	979	1017
DysFC	smart00694	6.1e-10	1037	1070
C2	smart00239	2.1e-14	1127	1234
C2	smart00239	1.1e-19	1541	1645
C2	smart00239	1.1e-11	1776	1906

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs11187393	Polymorphism	p.ARG1386CYS	N/A
dbSNP	rs11594445	Polymorphism	p.ARG1770GLN	N/A
dbSNP	rs36072133	Polymorphism	p.THR308SER	N/A
dbSNP	rs12256834	Polymorphism	p.TYR1185PHE	N/A
dbSNP	rs36032890	Polymorphism	p.VAL1123ILE	N/A

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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