Results for the protein: NP

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
SPEC	cd00176	1.6e-36	217	435
SPEC	cd00176	7.1e-23	597	813
SPEC	cd00176	2e-27	926	1142
SPEC	cd00176	4.4e-09	1144	1353
SPEC	cd00176	3e-08	1355	1555
SPEC	cd00176	9.9e-36	1982	2197
SPEC	cd00176	1.6e-29	2348	2565
SPEC	cd00176	7.2e-37	2567	2810
SPEC	cd00176	1.4e-21	2812	3063
WW	cd00201	5.6e-12	2935	2965
ZZ	cd02249	1.5e-06	3188	3236
ZZ_dystrophin	cd02334	3.8e-30	3188	3236
CH	pfam00307	3.1e-28	12	117
Spectrin	pfam00435	8.7e-21	216	324
Spectrin	pfam00435	1.7e-18	325	433
Spectrin	pfam00435	1e-08	707	811
Spectrin	pfam00435	2.7e-23	925	1031
Spectrin	pfam00435	4.9e-15	1034	1140
Spectrin	pfam00435	1.7e-12	1448	1553
Spectrin	pfam00435	1.5e-14	1556	1656
Spectrin	pfam00435	4e-11	1754	1856
Spectrin	pfam00435	1e-20	1981	2085
Spectrin	pfam00435	6.2e-16	2088	2195
Spectrin	pfam00435	0.00044	2347	2454
Spectrin	pfam00435	9e-14	2457	2563
Spectrin	pfam00435	3.8e-05	2566	2679
Spectrin	pfam00435	2.6e-20	2811	2917
WW	pfam00397	2e-11	2934	2963
ZZ	pfam00569	1.8e-24	3184	3229
CH	smart00033	1.3e-25	13	112
SPEC	smart00150	4.6e-18	219	323
SPEC	smart00150	3.1e-15	328	432
SPEC	smart00150	9.8e-10	599	704
SPEC	smart00150	5.9e-13	928	1030
SPEC	smart00150	6.1e-10	1037	1139
SPEC	smart00150	1.9e-08	1146	1243
SPEC	smart00150	2.1e-08	1345	1444
SPEC	smart00150	8.1e-19	1984	2084
SPEC	smart00150	2.7e-11	2091	2194
SPEC	smart00150	3.3e-17	2350	2453
SPEC	smart00150	1.1e-07	2460	2562
SPEC	smart00150	1.6e-18	2569	2678
SPEC	smart00150	7.1e-11	2685	2807
SPEC	smart00150	1.1e-15	2814	2916
WW	smart00456	1.1e-11	2934	2965
efhand_1	pfam09068	7.4e-74	2964	3084
efhand_2	pfam09069	2.6e-64	3088	3179
ZnF_ZZ	smart00291	2.9e-17	3184	3228

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs16990169	Polymorphism	p.ARG1985CYS	N/A
dbSNP	rs1800280	Polymorphism	p.ARG2814GLN	N/A
dbSNP	rs1801187	Polymorphism	p.ARG1622HIS	N/A
dbSNP	rs1800273	Polymorphism	p.ARG2032TRP	N/A
dbSNP	rs1800278	Polymorphism	p.ASN2789ASP	N/A
dbSNP	rs16990264	Polymorphism	p.ASN1549LYS	N/A
dbSNP	rs228406	Polymorphism	p.ASP759GLY	N/A
dbSNP	rs28715870	Polymorphism	p.PHE1265VAL	N/A
dbSNP	rs3827462	Polymorphism	p.THR1013SER	N/A
dbSNP	rs16998350	Polymorphism	p.THR592SER	N/A
OMIM	300377.0033	Disease	p.ALA45ASP	BECKER MUSCULAR DYSTROPHY
OMIM	300377.0070	Disease	p.ALA3298VAL	BECKER MUSCULAR DYSTROPHY
OMIM	300377.0077	Disease	p.ARG1191TER	BECKER MUSCULAR DYSTROPHY
OMIM	300377.0052	Disease	p.ARG1844TER	DUCHENNE MUSCULAR DYSTROPHY
OMIM	300377.0054	Disease	p.ARG1975TER	DUCHENNE MUSCULAR DYSTROPHY
OMIM	300377.0032	Disease	p.ARG22TER	DUCHENNE MUSCULAR DYSTROPHY
OMIM	300377.0082	Disease	p.ARG2782TER	DUCHENNE MUSCULAR DYSTROPHY
OMIM	300377.0005	Disease	p.ARG2859TER	DUCHENNE MUSCULAR DYSTROPHY
OMIM	300377.0076	Disease	p.ARG3067TER	DUCHENNE MUSCULAR DYSTROPHY
OMIM	300377.0007	Disease	p.ARG3247TER	DUCHENNE MUSCULAR DYSTROPHY
OMIM	300377.0067	Disease	p.ARG3258TER	DUCHENNE MUSCULAR DYSTROPHY
OMIM	300377.0062	Disease	p.ASN2789ASP	DUCHENNE MUSCULAR DYSTROPHY
OMIM	300377.0026	Disease	p.CYS3217TYR	DUCHENNE MUSCULAR DYSTROPHY, MENTAL RETARDATION, AND ABSENCE OF ERG\|\|B-WAVE
OMIM	300377.0036	Disease	p.GLN119TER	DUCHENNE MUSCULAR DYSTROPHY
OMIM	300377.0050	Disease	p.GLN1282TER	DUCHENNE MUSCULAR DYSTROPHY
OMIM	300377.0051	Disease	p.GLN1349TER	DUCHENNE MUSCULAR DYSTROPHY
OMIM	300377.0004	Disease	p.GLN1728TER	DUCHENNE MUSCULAR DYSTROPHY
OMIM	300377.0055	Disease	p.GLN2002TER	DUCHENNE MUSCULAR DYSTROPHY
OMIM	300377.0057	Disease	p.GLN2141TER	DUCHENNE MUSCULAR DYSTROPHY
OMIM	300377.0014	Disease	p.GLN2196TER	DUCHENNE MUSCULAR DYSTROPHY
OMIM	300377.0041	Disease	p.GLN374TER	DUCHENNE MUSCULAR DYSTROPHY
OMIM	300377.0023	Disease	p.GLN550TER	DUCHENNE MUSCULAR DYSTROPHY
OMIM	300377.0048	Disease	p.GLN918TER	DUCHENNE MUSCULAR DYSTROPHY
OMIM	300377.0001	Disease	p.GLU1034TER	DUCHENNE MUSCULAR DYSTROPHY
OMIM	300377.0037	Disease	p.GLU127TER	DUCHENNE MUSCULAR DYSTROPHY
OMIM	300377.0060	Disease	p.GLU2345TER	DUCHENNE MUSCULAR DYSTROPHY
OMIM	300377.0003	Disease	p.GLU808TER	DUCHENNE MUSCULAR DYSTROPHY
OMIM	300377.0061	Disease	p.GLU2787VAL	DUCHENNE MUSCULAR DYSTROPHY
OMIM	300377.0040	Disease	p.GLY357TER	INTERMEDIATE MUSCULAR DYSTROPHY
OMIM	300377.0063	Disease	p.HIS2798ARG	BECKER MUSCULAR DYSTROPHY
OMIM	300377.0045	Disease	p.LYS650GLU	DUCHENNE MUSCULAR DYSTROPHY
OMIM	300377.0044	Disease	p.LYS647TER	DUCHENNE MUSCULAR DYSTROPHY
OMIM	300377.0064	Disease	p.SER2943TER	DUCHENNE MUSCULAR DYSTROPHY
OMIM	300377.0073	Disease	p.THR156ALA	CARDIOMYOPATHY, DILATED, 3B
OMIM	300377.0043	Disease	p.TRP528TER	DUCHENNE MUSCULAR DYSTROPHY
OMIM	300377.0049	Disease	p.TRP940TER	DUCHENNE MUSCULAR DYSTROPHY
OMIM	300377.0035	Disease	p.TYR108ASN	BECKER MUSCULAR DYSTROPHY
OMIM	300377.0084	Disease	p.TYR1872TER	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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