Results for the protein: NP

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
CH	cd00014	2.2e-33	127	232
SPEC	cd00176	1.6e-36	332	550
SPEC	cd00176	7.1e-23	712	928
SPEC	cd00176	2e-27	1041	1257
SPEC	cd00176	4.4e-09	1259	1468
SPEC	cd00176	3e-08	1470	1670
SPEC	cd00176	9.9e-36	2097	2312
SPEC	cd00176	1.6e-29	2463	2680
SPEC	cd00176	7.2e-37	2682	2925
SPEC	cd00176	1.4e-21	2927	3178
WW	cd00201	5.6e-12	3050	3080
ZZ	cd02249	1.5e-06	3303	3351
ZZ_dystrophin	cd02334	3.8e-30	3303	3351
SAC6	COG5069	1.7e-06	1	548
CH	pfam00307	1.5e-26	8	111
CH	pfam00307	3.1e-28	127	232
Spectrin	pfam00435	8.7e-21	331	439
Spectrin	pfam00435	1.7e-18	440	548
Spectrin	pfam00435	1e-08	822	926
Spectrin	pfam00435	2.7e-23	1040	1146
Spectrin	pfam00435	4.9e-15	1149	1255
Spectrin	pfam00435	1.7e-12	1563	1668
Spectrin	pfam00435	1.5e-14	1671	1771
Spectrin	pfam00435	4e-11	1869	1971
Spectrin	pfam00435	1e-20	2096	2200
Spectrin	pfam00435	6.2e-16	2203	2310
Spectrin	pfam00435	0.00044	2462	2569
Spectrin	pfam00435	9e-14	2572	2678
Spectrin	pfam00435	3.8e-05	2681	2794
Spectrin	pfam00435	2.6e-20	2926	3032
WW	pfam00397	2e-11	3049	3078
ZZ	pfam00569	1.8e-24	3299	3344
CH	smart00033	5.1e-28	9	109
CH	smart00033	1.3e-25	128	227
SPEC	smart00150	4.6e-18	334	438
SPEC	smart00150	3.1e-15	443	547
SPEC	smart00150	9.8e-10	714	819
SPEC	smart00150	5.9e-13	1043	1145
SPEC	smart00150	6.1e-10	1152	1254
SPEC	smart00150	1.9e-08	1261	1358
SPEC	smart00150	2.1e-08	1460	1559
SPEC	smart00150	8.1e-19	2099	2199
SPEC	smart00150	2.7e-11	2206	2309
SPEC	smart00150	3.3e-17	2465	2568
SPEC	smart00150	1.1e-07	2575	2677
SPEC	smart00150	1.6e-18	2684	2793
SPEC	smart00150	7.1e-11	2800	2922
SPEC	smart00150	1.1e-15	2929	3031
WW	smart00456	1.1e-11	3049	3080
efhand_1	pfam09068	7.4e-74	3079	3199
efhand_2	pfam09069	2.6e-64	3203	3294
ZnF_ZZ	smart00291	2.9e-17	3299	3343

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs16990169	Polymorphism	p.ARG2100CYS	N/A
dbSNP	rs1800280	Polymorphism	p.ARG2929GLN	N/A
dbSNP	rs1801187	Polymorphism	p.ARG1737HIS	N/A
dbSNP	rs1800273	Polymorphism	p.ARG2147TRP	N/A
dbSNP	rs1800278	Polymorphism	p.ASN2904ASP	N/A
dbSNP	rs16990264	Polymorphism	p.ASN1664LYS	N/A
dbSNP	rs228406	Polymorphism	p.ASP874GLY	N/A
dbSNP	rs28715870	Polymorphism	p.PHE1380VAL	N/A
dbSNP	rs3827462	Polymorphism	p.THR1128SER	N/A
dbSNP	rs16998350	Polymorphism	p.THR707SER	N/A
OMIM	300377.0033	Disease	p.ALA160ASP	BECKER MUSCULAR DYSTROPHY
OMIM	300377.0070	Disease	p.ALA3413VAL	BECKER MUSCULAR DYSTROPHY
OMIM	300377.0077	Disease	p.ARG1306TER	BECKER MUSCULAR DYSTROPHY
OMIM	300377.0032	Disease	p.ARG137TER	DUCHENNE MUSCULAR DYSTROPHY
OMIM	300377.0052	Disease	p.ARG1959TER	DUCHENNE MUSCULAR DYSTROPHY
OMIM	300377.0054	Disease	p.ARG2090TER	DUCHENNE MUSCULAR DYSTROPHY
OMIM	300377.0082	Disease	p.ARG2897TER	DUCHENNE MUSCULAR DYSTROPHY
OMIM	300377.0005	Disease	p.ARG2974TER	DUCHENNE MUSCULAR DYSTROPHY
OMIM	300377.0076	Disease	p.ARG3182TER	DUCHENNE MUSCULAR DYSTROPHY
OMIM	300377.0007	Disease	p.ARG3362TER	DUCHENNE MUSCULAR DYSTROPHY
OMIM	300377.0067	Disease	p.ARG3373TER	DUCHENNE MUSCULAR DYSTROPHY
OMIM	300377.0062	Disease	p.ASN2904ASP	DUCHENNE MUSCULAR DYSTROPHY
OMIM	300377.0026	Disease	p.CYS3332TYR	DUCHENNE MUSCULAR DYSTROPHY, MENTAL RETARDATION, AND ABSENCE OF ERG\|\|B-WAVE
OMIM	300377.0048	Disease	p.GLN1033TER	DUCHENNE MUSCULAR DYSTROPHY
OMIM	300377.0050	Disease	p.GLN1397TER	DUCHENNE MUSCULAR DYSTROPHY
OMIM	300377.0051	Disease	p.GLN1464TER	DUCHENNE MUSCULAR DYSTROPHY
OMIM	300377.0004	Disease	p.GLN1843TER	DUCHENNE MUSCULAR DYSTROPHY
OMIM	300377.0055	Disease	p.GLN2117TER	DUCHENNE MUSCULAR DYSTROPHY
OMIM	300377.0057	Disease	p.GLN2256TER	DUCHENNE MUSCULAR DYSTROPHY
OMIM	300377.0014	Disease	p.GLN2311TER	DUCHENNE MUSCULAR DYSTROPHY
OMIM	300377.0036	Disease	p.GLN234TER	DUCHENNE MUSCULAR DYSTROPHY
OMIM	300377.0041	Disease	p.GLN489TER	DUCHENNE MUSCULAR DYSTROPHY
OMIM	300377.0029	Disease	p.GLN52TER	DUCHENNE MUSCULAR DYSTROPHY
OMIM	300377.0023	Disease	p.GLN665TER	DUCHENNE MUSCULAR DYSTROPHY
OMIM	300377.0031	Disease	p.GLN77TER	DUCHENNE MUSCULAR DYSTROPHY
OMIM	300377.0001	Disease	p.GLU1149TER	DUCHENNE MUSCULAR DYSTROPHY
OMIM	300377.0037	Disease	p.GLU242TER	DUCHENNE MUSCULAR DYSTROPHY
OMIM	300377.0060	Disease	p.GLU2460TER	DUCHENNE MUSCULAR DYSTROPHY
OMIM	300377.0003	Disease	p.GLU923TER	DUCHENNE MUSCULAR DYSTROPHY
OMIM	300377.0061	Disease	p.GLU2902VAL	DUCHENNE MUSCULAR DYSTROPHY
OMIM	300377.0040	Disease	p.GLY472TER	INTERMEDIATE MUSCULAR DYSTROPHY
OMIM	300377.0063	Disease	p.HIS2913ARG	BECKER MUSCULAR DYSTROPHY
OMIM	300377.0020	Disease	p.LEU46ARG	DUCHENNE MUSCULAR DYSTROPHY
OMIM	300377.0045	Disease	p.LYS765GLU	DUCHENNE MUSCULAR DYSTROPHY
OMIM	300377.0044	Disease	p.LYS762TER	DUCHENNE MUSCULAR DYSTROPHY
OMIM	300377.0064	Disease	p.SER3058TER	DUCHENNE MUSCULAR DYSTROPHY
OMIM	300377.0073	Disease	p.THR271ALA	CARDIOMYOPATHY, DILATED, 3B
OMIM	300377.0086	Disease	p.TRP1TER	BECKER MUSCULAR DYSTROPHY
OMIM	300377.0049	Disease	p.TRP1055TER	DUCHENNE MUSCULAR DYSTROPHY
OMIM	300377.0043	Disease	p.TRP643TER	DUCHENNE MUSCULAR DYSTROPHY
OMIM	300377.0035	Disease	p.TYR223ASN	BECKER MUSCULAR DYSTROPHY
OMIM	300377.0084	Disease	p.TYR1987TER	DUCHENNE MUSCULAR DYSTROPHY

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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