Results for the protein: NP

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
EGF_Lam	cd00055	2.2e-17	343	412
EGF_Lam	cd00055	6.1e-15	413	467
EGF_Lam	cd00055	1.8e-06	468	516
EGF_Lam	cd00055	3.5e-17	756	805
EGF_Lam	cd00055	1.2e-14	806	863
EGF_Lam	cd00055	1e-16	864	916
EGF_Lam	cd00055	4.5e-18	917	965
EGF_Lam	cd00055	1.3e-15	966	1012
EGF_Lam	cd00055	5e-15	1013	1058
EGF_Lam	cd00055	1e-10	1059	1104
EGF_Lam	cd00055	6.9e-15	1105	1164
EGF_Lam	cd00055	4.3e-17	1419	1467
EGF_Lam	cd00055	3.9e-12	1468	1525
EGF_Lam	cd00055	1.7e-12	1526	1572
LamG	cd00110	1.5e-27	2145	2309
LamG	cd00110	2e-36	2340	2502
LamG	cd00110	1.3e-35	2528	2690
LamG	cd00110	4.1e-42	2765	2916
LamG	cd00110	1.8e-40	2941	3094
Laminin_N	pfam00055	7.7e-146	39	285
Laminin_EGF	pfam00053	0.0007	344	411
Laminin_EGF	pfam00053	3.9e-11	414	466
Laminin_EGF	pfam00053	5e-10	469	515
Laminin_B	pfam00052	9e-23	583	722
Laminin_EGF	pfam00053	2.5e-14	757	804
Laminin_EGF	pfam00053	2.9e-13	807	862
Laminin_EGF	pfam00053	5.6e-13	865	915
Laminin_EGF	pfam00053	7.8e-16	918	964
Laminin_EGF	pfam00053	6.6e-13	967	1011
Laminin_EGF	pfam00053	3.7e-12	1014	1057
Laminin_EGF	pfam00053	1.2e-07	1060	1103
Laminin_EGF	pfam00053	2.4e-10	1106	1163
Laminin_B	pfam00052	1.2e-36	1234	1378
Laminin_EGF	pfam00053	9.2e-13	1420	1466
Laminin_EGF	pfam00053	1.5e-11	1469	1524
Laminin_EGF	pfam00053	4.8e-07	1527	1571
Laminin_G_1	pfam00054	1.9e-46	2174	2314
Laminin_G_2	pfam02210	4.7e-15	2174	2311
Laminin_G_1	pfam00054	2.9e-51	2368	2507
Laminin_G_2	pfam02210	1.3e-23	2368	2504
Laminin_G_1	pfam00054	2.7e-53	2554	2695
Laminin_G_2	pfam02210	3.4e-19	2554	2692
Laminin_G_1	pfam00054	6.3e-55	2793	2921
Laminin_G_2	pfam02210	4.7e-33	2793	2918
Laminin_G_1	pfam00054	4.3e-21	2968	3102
Laminin_G_2	pfam02210	1.7e-27	2968	3096
LamNT	smart00136	2.7e-127	33	285
EGF_Lam	smart00180	5.8e-07	287	341
EGF_Lam	smart00180	1.1e-19	344	411
EGF_Lam	smart00180	2.8e-13	414	466
EGF_Lam	smart00180	1.3e-06	469	515
LamB	smart00281	1.4e-59	578	710
EGF_Lam	smart00180	2.6e-16	757	804
EGF_Lam	smart00180	5.5e-13	807	862
EGF_Lam	smart00180	4.5e-15	865	915
EGF_Lam	smart00180	3.5e-17	918	964
EGF_Lam	smart00180	5.6e-14	967	1011
EGF_Lam	smart00180	5.2e-13	1014	1057
EGF_Lam	smart00180	2.4e-08	1060	1103
EGF_Lam	smart00180	6.6e-16	1106	1163
LamB	smart00281	4.2e-69	1229	1364
EGF_Lam	smart00180	1.4e-15	1420	1466
EGF_Lam	smart00180	4.1e-10	1469	1524
EGF_Lam	smart00180	2.6e-11	1527	1574
Laminin_I	pfam06008	3.3e-90	1588	1853
Laminin_II	pfam06009	7.6e-61	2037	2173
LamG	smart00282	2.1e-35	2166	2311
LamG	smart00282	1.8e-39	2360	2504
LamG	smart00282	2.3e-35	2546	2692
LamG	smart00282	2.7e-40	2785	2918
LamG	smart00282	2e-36	2960	3096

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs2229848	Polymorphism	p.ALA2587VAL	N/A
dbSNP	rs3816665	Polymorphism	p.ARG619HIS	N/A
dbSNP	rs35277491	Polymorphism	p.ARG919LEU	N/A
dbSNP	rs34626728	Polymorphism	p.ARG96SER	N/A
dbSNP	rs73599293	Polymorphism	p.ASN2843SER	N/A
dbSNP	rs35879899	Polymorphism	p.HIS644ASP	N/A
dbSNP	rs35889149	Polymorphism	p.THR1205ALA	N/A
dbSNP	rs2244008	Polymorphism	p.THR2636ALA	N/A
dbSNP	rs34551216	Polymorphism	p.THR3029ALA	N/A
dbSNP	rs73775407	Polymorphism	p.THR2056LYS	N/A
dbSNP	rs2306942	Polymorphism	p.VAL1138MET	N/A
OMIM	156225.0011	Disease	p.ARG1549TER	MUSCULAR DYSTROPHY, CONGENITAL, DUE TO PARTIAL LAMA2 DEFICIENCY
OMIM	156225.0012	Disease	p.ARG2383TER	MUSCULAR DYSTROPHY, CONGENITAL, DUE TO PARTIAL LAMA2 DEFICIENCY
OMIM	156225.0008	Disease	p.ARG2578TER	MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT
OMIM	156225.0005	Disease	p.ARG3085TER	MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT
OMIM	156225.0009	Disease	p.CYS862ARG	MUSCULAR DYSTROPHY, CONGENITAL, DUE TO PARTIAL LAMA2 DEFICIENCY
OMIM	156225.0013	Disease	p.CYS967TER	MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT
OMIM	156225.0010	Disease	p.CYS527TYR	MUSCULAR DYSTROPHY, CONGENITAL, DUE TO PARTIAL LAMA2 DEFICIENCY
OMIM	156225.0002	Disease	p.GLN1241TER	MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT
OMIM	156225.0004	Disease	p.LEU2564PRO	MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT

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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