Results for the protein: P82279

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
EGF	cd00053	1.3e-10	73	108
EGF	cd00053	3.2e-06	113	146
EGF_CA	cd00054	2.3e-14	148	184
EGF	cd00053	2.2e-12	151	184
EGF_CA	cd00054	8.1e-14	186	222
EGF	cd00053	4.4e-11	189	222
EGF_CA	cd00054	8.5e-13	224	260
EGF	cd00053	1e-11	227	260
EGF_CA	cd00054	6.7e-11	262	299
EGF	cd00053	1.4e-09	265	299
EGF_CA	cd00054	1.3e-05	301	337
EGF	cd00053	4.1e-08	304	337
EGF_CA	cd00054	0.00028	339	395
EGF	cd00053	6.6e-06	342	395
EGF_CA	cd00054	1e-12	397	439
EGF	cd00053	4.2e-06	400	439
EGF	cd00053	2.4e-06	444	481
LamG	cd00110	3.3e-13	485	649
EGF_CA	cd00054	2e-07	672	708
EGF	cd00053	5.5e-08	675	708
LamG	cd00110	8e-13	713	858
EGF_CA	cd00054	5.7e-07	887	923
EGF	cd00053	7.2e-08	890	923
LamG	cd00110	1.3e-16	951	1103
EGF_CA	cd00054	3.9e-10	1139	1175
EGF	cd00053	6.3e-10	1142	1175
EGF_CA	cd00054	5.5e-12	1177	1212
EGF	cd00053	1.2e-08	1180	1212
EGF_CA	cd00054	2e-08	1214	1250
EGF	cd00053	5.8e-06	1217	1250
EGF_CA	cd00054	3.9e-13	1297	1333
EGF	cd00053	3.6e-10	1300	1333
EGF	pfam00008	1.3e-07	74	106
EGF	pfam00008	1.4e-05	114	144
EGF	pfam00008	5.6e-09	152	182
EGF	pfam00008	2.4e-08	190	220
EGF	pfam00008	9.2e-07	228	258
EGF	pfam00008	7e-05	266	297
EGF	pfam00008	6.3e-06	305	335
EGF	pfam00008	0.00059	401	437
EGF	pfam00008	2.9e-06	445	479
Laminin_G_1	pfam00054	0.00036	514	654
Laminin_G_2	pfam02210	1.1e-23	514	651
EGF	pfam00008	1.9e-07	676	706
Laminin_G_1	pfam00054	0.00019	743	863
Laminin_G_2	pfam02210	3.5e-19	743	860
EGF	pfam00008	7.8e-07	891	921
Laminin_G_1	pfam00054	2.3e-05	980	1108
Laminin_G_2	pfam02210	2.3e-23	980	1105
EGF	pfam00008	8e-08	1143	1173
EGF	pfam00008	1.9e-06	1181	1210
EGF	pfam00008	0.00012	1218	1248
EGF	pfam00008	2.8e-06	1301	1331
EGF_CA	smart00179	6.4e-06	71	108
EGF	smart00181	1.6e-09	73	108
EGF	smart00181	0.0001	113	146
EGF_CA	smart00179	4e-14	148	184
EGF	smart00181	7.6e-11	151	184
EGF_CA	smart00179	2.6e-13	186	222
EGF_CA	pfam07645	0.00041	187	221
EGF	smart00181	6.4e-10	189	222
EGF_CA	smart00179	9.8e-13	224	260
EGF	smart00181	1.9e-10	227	260
EGF_CA	smart00179	3.4e-10	262	299
EGF	smart00181	8.3e-08	265	299
EGF	smart00181	1.7e-07	304	337
EGF_CA	smart00179	0.0006	305	337
EGF_CA	smart00179	0.00028	339	395
EGF_CA	smart00179	1.5e-10	397	439
EGF	smart00181	1.5e-05	400	439
EGF	smart00181	0.00018	444	481
LamG	smart00282	2.2e-07	506	651
EGF_CA	smart00179	3.5e-07	672	708
EGF	smart00181	7.5e-07	675	708
LamG	smart00282	1.7e-06	735	860
EGF_CA	smart00179	0.00044	889	923
EGF	smart00181	7.7e-07	890	923
LamG	smart00282	1.2e-10	972	1105
EGF_CA	smart00179	4.5e-09	1139	1175
EGF	smart00181	1e-08	1142	1175
EGF_CA	smart00179	1.3e-11	1177	1212
EGF	smart00181	1.6e-07	1180	1212
EGF_CA	smart00179	1.2e-07	1214	1250
EGF	smart00181	4.1e-05	1217	1250
EGF_CA	smart00179	1.9e-12	1297	1333
EGF	smart00181	1.7e-08	1300	1333

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_067158	Polymorphism	p.ALA1365ASP	N/A
Swiss-Prot	VAR_022982	Polymorphism	p.ALA1354THR	N/A
Swiss-Prot	VAR_067146	Polymorphism	p.ALA937THR	N/A
Swiss-Prot	VAR_011641	Disease	p.ALA161VAL	Retinitis pigmentosa 12 (RP12)
Swiss-Prot	VAR_011644	Disease	p.ARG764CYS	Retinitis pigmentosa 12 (RP12)
Swiss-Prot	VAR_022959	Polymorphism	p.ARG769GLN	N/A
Swiss-Prot	VAR_022967	Polymorphism	p.ARG905GLN	N/A
Swiss-Prot	VAR_022981	Polymorphism	p.ARG1331HIS	N/A
Swiss-Prot	VAR_022983	Disease	p.ARG1383HIS	Retinitis pigmentosa 12 (RP12)
dbSNP	rs62636287	Polymorphism	p.ARG769HIS	N/A
Swiss-Prot	VAR_022979	Disease	p.ASN1317HIS	Leber congenital amaurosis 8 (LCA8)
Swiss-Prot	VAR_022970	Disease	p.ASN986ILE	Retinitis pigmentosa 12 (RP12)
Swiss-Prot	VAR_067130	Disease	p.ASN312LYS	Retinitis pigmentosa 12 (RP12)
Swiss-Prot	VAR_022966	Disease	p.ASN894SER	Retinitis pigmentosa 12 (RP12)
Swiss-Prot	VAR_022961	Disease	p.ASP837HIS	Retinitis pigmentosa 12 (RP12)
Swiss-Prot	VAR_067137	Disease	p.ASP564TYR	Leber congenital amaurosis 8 (LCA8)
Swiss-Prot	VAR_022951	Disease	p.ASP584TYR	Leber congenital amaurosis 8 (LCA8)
Swiss-Prot	VAR_067135	Polymorphism	p.ASP491VAL	N/A
Swiss-Prot	VAR_011649	Disease	p.CYS1181ARG	Retinitis pigmentosa 12 (RP12)
Swiss-Prot	VAR_022949	Disease	p.CYS480ARG	Leber congenital amaurosis 8 (LCA8)
Swiss-Prot	VAR_067153	Disease	p.CYS1174GLY	Retinitis pigmentosa 12 (RP12)
Swiss-Prot	VAR_022948	Disease	p.CYS480GLY	Leber congenital amaurosis 8 (LCA8)
Swiss-Prot	VAR_022965	Disease	p.CYS891GLY	Retinitis pigmentosa 12 (RP12)
Swiss-Prot	VAR_022978	Disease	p.CYS1218PHE	Leber congenital amaurosis 8 (LCA8)
Swiss-Prot	VAR_067157	Disease	p.CYS1332PHE	Leber congenital amaurosis 8 (LCA8)
Swiss-Prot	VAR_022943	Disease	p.CYS195PHE	Retinitis pigmentosa 12 (RP12)
Swiss-Prot	VAR_064180	Disease	p.CYS27PHE	Retinitis pigmentosa 12 (RP12)
Swiss-Prot	VAR_067155	Polymorphism	p.CYS1223SER	N/A
Swiss-Prot	VAR_022980	Disease	p.CYS1321SER	Leber congenital amaurosis 8 (LCA8)
Swiss-Prot	VAR_067126	Disease	p.CYS157SER	Retinitis pigmentosa 12 (RP12)
Swiss-Prot	VAR_064181	Disease	p.CYS1165TRP	Retinitis pigmentosa 12 (RP12)
Swiss-Prot	VAR_011642	Disease	p.CYS250TRP	Retinitis pigmentosa 12 (RP12)
Swiss-Prot	VAR_067125	Disease	p.CYS45TRP	Retinitis pigmentosa 12 (RP12)
Swiss-Prot	VAR_067129	Polymorphism	p.CYS310TYR	N/A
Swiss-Prot	VAR_022946	Disease	p.CYS383TYR	Leber congenital amaurosis 8 (LCA8)
Swiss-Prot	VAR_067132	Disease	p.CYS438TYR	Leber congenital amaurosis 8 (LCA8)
Swiss-Prot	VAR_022952	Disease	p.CYS587TYR	Retinitis pigmentosa 12 (RP12)
Swiss-Prot	VAR_022954	Disease	p.CYS681TYR	Leber congenital amaurosis 8 (LCA8)
Swiss-Prot	VAR_067147	Disease	p.CYS939TYR	Leber congenital amaurosis 8 (LCA8)
Swiss-Prot	VAR_011645	Disease	p.CYS948TYR	Retinitis pigmentosa 12 (RP12)
Swiss-Prot	VAR_022953	Polymorphism	p.GLN679GLU	N/A
Swiss-Prot	VAR_022955	Disease	p.GLU710GLN	Leber congenital amaurosis 8 (LCA8)
Swiss-Prot	VAR_067128	Polymorphism	p.GLU222LYS	N/A
Swiss-Prot	VAR_067140	Disease	p.GLU710VAL	Retinitis pigmentosa 12 (RP12)
Swiss-Prot	VAR_022974	Disease	p.GLY1103ARG	Retinitis pigmentosa 12 (RP12)
Swiss-Prot	VAR_022977	Disease	p.GLY1205ARG	Leber congenital amaurosis 8 (LCA8)
Swiss-Prot	VAR_067133	Disease	p.GLY454ARG	Leber congenital amaurosis 8 (LCA8)
Swiss-Prot	VAR_022962	Disease	p.GLY846ARG	Retinitis pigmentosa 12 (RP12)
Swiss-Prot	VAR_067131	Disease	p.GLY333ASP	Leber congenital amaurosis 8 (LCA8)
Swiss-Prot	VAR_022963	Disease	p.GLY850SER	Retinitis pigmentosa 12 (RP12)
Swiss-Prot	VAR_022968	Polymorphism	p.GLY959SER	N/A
Swiss-Prot	VAR_011648	Disease	p.ILE1100ARG	Leber congenital amaurosis 8 (LCA8)
Swiss-Prot	VAR_067148	Disease	p.ILE1003THR	Leber congenital amaurosis 8 (LCA8)
Swiss-Prot	VAR_022973	Disease	p.ILE1100THR	Retinitis pigmentosa 12 (RP12)
Swiss-Prot	VAR_022944	Polymorphism	p.ILE205THR	N/A
Swiss-Prot	VAR_022964	Disease	p.ILE852THR	Leber congenital amaurosis 8 (LCA8)
Swiss-Prot	VAR_022971	Disease	p.ILE989THR	Leber congenital amaurosis 8 (LCA8)
Swiss-Prot	VAR_022976	Disease	p.LEU1107ARG	Leber congenital amaurosis 8 (LCA8)
Swiss-Prot	VAR_011647	Disease	p.LEU1071PRO	Retinitis pigmentosa 12 (RP12)
Swiss-Prot	VAR_022975	Disease	p.LEU1107PRO	Leber congenital amaurosis 8 (LCA8)
Swiss-Prot	VAR_067136	Disease	p.LEU535PRO	Leber congenital amaurosis 8 (LCA8)
Swiss-Prot	VAR_067142	Disease	p.LEU753PRO	Leber congenital amaurosis 8 (LCA8)
Swiss-Prot	VAR_067149	Disease	p.LEU1012SER	Retinitis pigmentosa 12 (RP12)
Swiss-Prot	VAR_068363	Disease	p.LYS534ASN	Retinitis pigmentosa 12 (RP12)
Swiss-Prot	VAR_011646	Disease	p.MET1041THR	Retinitis pigmentosa 12 (RP12)
Swiss-Prot	VAR_022956	Disease	p.MET741THR	Leber congenital amaurosis 8 (LCA8)
Swiss-Prot	VAR_067134	Polymorphism	p.PHE488SER	N/A
Swiss-Prot	VAR_022941	Disease	p.PHE144VAL	Leber congenital amaurosis 8 (LCA8)
Swiss-Prot	VAR_067156	Disease	p.PRO1305LEU	Retinitis pigmentosa 12 (RP12)
Swiss-Prot	VAR_067159	Disease	p.PRO1381LEU	Leber congenital amaurosis 8 (LCA8)
Swiss-Prot	VAR_022960	Disease	p.PRO836THR	Retinitis pigmentosa 12 (RP12)
Swiss-Prot	VAR_067150	Disease	p.SER1025ASN	Retinitis pigmentosa 12 (RP12)
Swiss-Prot	VAR_022972	Disease	p.SER1025ILE	Leber congenital amaurosis 8 (LCA8)
Swiss-Prot	VAR_067141	Disease	p.SER740PHE	Retinitis pigmentosa 12 (RP12)
Swiss-Prot	VAR_067138	Polymorphism	p.SER635PRO	N/A
Swiss-Prot	VAR_067151	Disease	p.THR1099LYS	Retinitis pigmentosa 12 (RP12)
Swiss-Prot	VAR_022945	Polymorphism	p.THR289MET	N/A
Swiss-Prot	VAR_011643	Disease	p.THR745MET	Retinitis pigmentosa 12 (RP12)
Swiss-Prot	VAR_067144	Polymorphism	p.THR821MET	N/A
Swiss-Prot	VAR_067139	Disease	p.TRP675CYS	Retinitis pigmentosa 12 (RP12)
Swiss-Prot	VAR_067152	Disease	p.TYR1161CYS	Leber congenital amaurosis 8 (LCA8)
Swiss-Prot	VAR_067154	Polymorphism	p.TYR1198CYS	N/A
Swiss-Prot	VAR_022947	Disease	p.TYR433CYS	Retinitis pigmentosa 12 (RP12)
Swiss-Prot	VAR_022950	Disease	p.VAL578GLU	Retinitis pigmentosa 12 (RP12)
Swiss-Prot	VAR_067145	Polymorphism	p.VAL901ILE	N/A
Swiss-Prot	VAR_022942	Disease	p.VAL162MET	Pigmented paravenous chorioretinal atrophy (PPCRA)
OMIM	604210.0004	Disease	p.ARG764CYS	RETINITIS PIGMENTOSA 12
OMIM	604210.0009	Disease	p.CYS1181ARG	RETINITIS PIGMENTOSA 12
OMIM	604210.0013	Disease	p.CYS948TYR	LEBER CONGENITAL AMAUROSIS 8\|\|RETINITIS PIGMENTOSA 12, INCLUDED
OMIM	604210.0007	Disease	p.GLU1333TER	LEBER CONGENITAL AMAUROSIS 8
OMIM	604210.0003	Disease	p.GLU995TER	RETINITIS PIGMENTOSA 12
OMIM	604210.0011	Disease	p.GLY1103ARG	LEBER CONGENITAL AMAUROSIS 8\|\|RETINITIS PIGMENTOSA 12, INCLUDED
OMIM	604210.0006	Disease	p.ILE1100ARG	LEBER CONGENITAL AMAUROSIS 8
OMIM	604210.0008	Disease	p.LYS801TER	RETINITIS PIGMENTOSA 12
OMIM	604210.0002	Disease	p.MET1041THR	RETINITIS PIGMENTOSA 12
OMIM	604210.0005	Disease	p.THR745MET	RETINITIS PIGMENTOSA 12
OMIM	604210.0010	Disease	p.VAL162MET	PIGMENTED PARAVENOUS CHORIORETINAL ATROPHY

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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