Results for the protein: P24043

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	3.4e-36	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	6.6e-54	2554	2695
Laminin_G_2	pfam02210	8.4e-20	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	5.5e-36	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 ↕
Swiss-Prot	VAR_047719	Polymorphism	p.ALA1945THR	N/A
Swiss-Prot	VAR_047720	Polymorphism	p.ALA2587VAL	N/A
Swiss-Prot	VAR_004166	Polymorphism	p.ARG619HIS	N/A
Swiss-Prot	VAR_004167	Polymorphism	p.ARG919LEU	N/A
Swiss-Prot	VAR_047713	Polymorphism	p.ARG96SER	N/A
Swiss-Prot	VAR_015744	Disease	p.CYS862ARG	Merosin-deficient congenital muscular dystrophy 1A (MDC1A)
Swiss-Prot	VAR_015743	Disease	p.CYS527TYR	Merosin-deficient congenital muscular dystrophy 1A (MDC1A)
Swiss-Prot	VAR_004169	Polymorphism	p.GLU2614LYS	N/A
Swiss-Prot	VAR_047715	Polymorphism	p.HIS644ASP	N/A
Swiss-Prot	VAR_004165	Polymorphism	p.LEU545GLN	N/A
Swiss-Prot	VAR_015745	Disease	p.LEU2564PRO	Merosin-deficient congenital muscular dystrophy 1A (MDC1A)
Swiss-Prot	VAR_047718	Polymorphism	p.LYS1561GLN	N/A
Swiss-Prot	VAR_035819	Polymorphism	p.PRO1160ALA	N/A
Swiss-Prot	VAR_047717	Polymorphism	p.THR1205ALA	N/A
Swiss-Prot	VAR_047721	Polymorphism	p.THR2636ALA	N/A
Swiss-Prot	VAR_047722	Polymorphism	p.THR3029ALA	N/A
Swiss-Prot	VAR_047714	Polymorphism	p.TYR240HIS	N/A
Swiss-Prot	VAR_004168	Polymorphism	p.TYR2586HIS	N/A
Swiss-Prot	VAR_047716	Polymorphism	p.VAL1138MET	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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