Results for the protein: NP

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
SPEC	cd00176	9.9e-36	764	979
SPEC	cd00176	1.6e-29	1130	1347
SPEC	cd00176	7.2e-37	1349	1592
SPEC	cd00176	1.4e-21	1594	1845
WW	cd00201	5.6e-12	1717	1747
ZZ	cd02249	1.5e-06	1970	2018
ZZ_dystrophin	cd02334	3.8e-30	1970	2018
Spectrin	pfam00435	1.7e-12	230	335
Spectrin	pfam00435	1.5e-14	338	438
Spectrin	pfam00435	4e-11	536	638
Spectrin	pfam00435	1e-20	763	867
Spectrin	pfam00435	6.2e-16	870	977
Spectrin	pfam00435	0.00044	1129	1236
Spectrin	pfam00435	9e-14	1239	1345
Spectrin	pfam00435	3.8e-05	1348	1461
Spectrin	pfam00435	2.6e-20	1593	1699
WW	pfam00397	2e-11	1716	1745
ZZ	pfam00569	1.8e-24	1966	2011
SPEC	smart00150	2.1e-08	127	226
SPEC	smart00150	8.1e-19	766	866
SPEC	smart00150	2.7e-11	873	976
SPEC	smart00150	3.3e-17	1132	1235
SPEC	smart00150	1.1e-07	1242	1344
SPEC	smart00150	1.6e-18	1351	1460
SPEC	smart00150	7.1e-11	1467	1589
SPEC	smart00150	1.1e-15	1596	1698
WW	smart00456	1.1e-11	1716	1747
efhand_1	pfam09068	7.4e-74	1746	1866
efhand_2	pfam09069	2.6e-64	1870	1961
ZnF_ZZ	smart00291	2.9e-17	1966	2010

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs16990169	Polymorphism	p.ARG767CYS	N/A
dbSNP	rs1800280	Polymorphism	p.ARG1596GLN	N/A
dbSNP	rs1801187	Polymorphism	p.ARG404HIS	N/A
dbSNP	rs1800273	Polymorphism	p.ARG814TRP	N/A
dbSNP	rs1800278	Polymorphism	p.ASN1571ASP	N/A
dbSNP	rs16990264	Polymorphism	p.ASN331LYS	N/A
dbSNP	rs28715870	Polymorphism	p.PHE47VAL	N/A
OMIM	300377.0070	Disease	p.ALA2080VAL	BECKER MUSCULAR DYSTROPHY
OMIM	300377.0082	Disease	p.ARG1564TER	DUCHENNE MUSCULAR DYSTROPHY
OMIM	300377.0005	Disease	p.ARG1641TER	DUCHENNE MUSCULAR DYSTROPHY
OMIM	300377.0076	Disease	p.ARG1849TER	DUCHENNE MUSCULAR DYSTROPHY
OMIM	300377.0007	Disease	p.ARG2029TER	DUCHENNE MUSCULAR DYSTROPHY
OMIM	300377.0067	Disease	p.ARG2040TER	DUCHENNE MUSCULAR DYSTROPHY
OMIM	300377.0052	Disease	p.ARG626TER	DUCHENNE MUSCULAR DYSTROPHY
OMIM	300377.0054	Disease	p.ARG757TER	DUCHENNE MUSCULAR DYSTROPHY
OMIM	300377.0062	Disease	p.ASN1571ASP	DUCHENNE MUSCULAR DYSTROPHY
OMIM	300377.0026	Disease	p.CYS1999TYR	DUCHENNE MUSCULAR DYSTROPHY, MENTAL RETARDATION, AND ABSENCE OF ERG\|\|B-WAVE
OMIM	300377.0051	Disease	p.GLN131TER	DUCHENNE MUSCULAR DYSTROPHY
OMIM	300377.0004	Disease	p.GLN510TER	DUCHENNE MUSCULAR DYSTROPHY
OMIM	300377.0050	Disease	p.GLN64TER	DUCHENNE MUSCULAR DYSTROPHY
OMIM	300377.0055	Disease	p.GLN784TER	DUCHENNE MUSCULAR DYSTROPHY
OMIM	300377.0057	Disease	p.GLN923TER	DUCHENNE MUSCULAR DYSTROPHY
OMIM	300377.0014	Disease	p.GLN978TER	DUCHENNE MUSCULAR DYSTROPHY
OMIM	300377.0060	Disease	p.GLU1127TER	DUCHENNE MUSCULAR DYSTROPHY
OMIM	300377.0061	Disease	p.GLU1569VAL	DUCHENNE MUSCULAR DYSTROPHY
OMIM	300377.0063	Disease	p.HIS1580ARG	BECKER MUSCULAR DYSTROPHY
OMIM	300377.0064	Disease	p.SER1725TER	DUCHENNE MUSCULAR DYSTROPHY
OMIM	300377.0084	Disease	p.TYR654TER	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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