Results for the protein: NP

Results for the Protein: NP_001136272

224451128

346007

EYS

NCBI

protein eyes shut homolog isoform 1 [Homo sapiens]

Known Diseases associated with this Protein:
RETINITIS PIGMENTOSA 25

2

16

2

16

0

Tips:

The Domains on the Default View are decided by the Domain's E-Value.

Clicking a check box will display or hide the correlated domain.

To view the Gene page, either click on the link to the left or the blue bar above the Protein's graphic.

Default View: EGF - pfam00008 EGF_CA - cd00054 EGF_CA - smart00179 EGF - smart00181 EGF - cd00053 LamG - cd00110 LamG - smart00282 Laminin_G_2 - pfam02210 Laminin_G_1 - pfam00054	RefSeq Protein: NP_001136272 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
EGF	cd00053	7.1e-05	216	254
EGF	cd00053	6.7e-05	259	292
EGF_CA	cd00054	5e-15	681	720
EGF	cd00053	2.7e-10	684	720
EGF_CA	cd00054	1.1e-08	733	769
EGF	cd00053	2.1e-07	736	769
EGF_CA	cd00054	7.2e-12	771	807
EGF	cd00053	2.4e-10	774	807
EGF_CA	cd00054	1.2e-08	809	847
EGF	cd00053	8.2e-08	812	847
EGF	cd00053	8.7e-06	852	888
EGF_CA	cd00054	4.8e-08	890	926
EGF	cd00053	3.8e-07	893	926
EGF_CA	cd00054	3.6e-11	928	964
EGF	cd00053	8.3e-09	931	964
EGF_CA	cd00054	4.4e-07	966	1002
EGF	cd00053	2.7e-05	969	1002
EGF_CA	cd00054	2.8e-12	1004	1040
EGF	cd00053	9.1e-11	1007	1040
EGF_CA	cd00054	9.4e-09	1079	1115
EGF	cd00053	6.3e-08	1082	1115
EGF_CA	cd00054	5.1e-07	1117	1159
EGF	cd00053	2.4e-08	1120	1159
EGF_CA	cd00054	1.5e-14	1161	1197
EGF	cd00053	5.2e-12	1164	1197
LamG	cd00110	1.1e-12	1886	2044
EGF	cd00053	8e-06	2102	2140
LamG	cd00110	6e-14	2147	2315
EGF	cd00053	1.1e-05	2338	2371
EGF	cd00053	1.9e-05	2374	2408
LamG	cd00110	1.8e-12	2415	2583
EGF	cd00053	2e-05	2613	2646
EGF_CA	cd00054	4.9e-05	2648	2689
EGF	cd00053	5.6e-07	2651	2689
LamG	cd00110	2.9e-25	2696	2854
EGF	cd00053	0.00022	2878	2911
EGF	cd00053	1.3e-06	2915	2949
LamG	cd00110	1e-13	2956	3118
EGF	pfam00008	0.00014	174	210
EGF	pfam00008	0.00013	217	252
EGF	pfam00008	1.6e-05	685	715
EGF	pfam00008	6.9e-06	775	805
EGF	pfam00008	1e-05	813	845
EGF	pfam00008	5.5e-07	932	962
EGF	pfam00008	4.1e-08	1008	1038
EGF	pfam00008	1.5e-07	1083	1113
EGF	pfam00008	2.2e-07	1165	1195
Laminin_G_2	pfam02210	1.1e-12	1911	2046
EGF	pfam00008	8.1e-06	2103	2138
Laminin_G_1	pfam00054	0.00063	2179	2320
Laminin_G_2	pfam02210	7.2e-11	2179	2317
EGF	pfam00008	0.00077	2339	2369
EGF	pfam00008	9.3e-05	2375	2406
Laminin_G_2	pfam02210	2.6e-16	2448	2585
Laminin_G_1	pfam00054	1.9e-10	2455	2588
EGF	pfam00008	4.2e-05	2614	2644
EGF	pfam00008	0.0004	2652	2687
Laminin_G_1	pfam00054	2.6e-18	2724	2859
Laminin_G_2	pfam02210	7.3e-25	2724	2856
Laminin_G_1	pfam00054	6.7e-05	2986	3123
Laminin_G_2	pfam02210	1e-21	2986	3120
EGF_CA	smart00179	2.6e-05	213	254
EGF	smart00181	0.00013	216	254
EGF_CA	smart00179	5.7e-16	681	720
EGF	smart00181	7.1e-10	684	720
EGF_CA	smart00179	6.6e-10	733	769
EGF	smart00181	8.3e-06	736	769
EGF_CA	smart00179	7.8e-11	771	807
EGF	smart00181	7.8e-09	774	807
EGF_CA	smart00179	1.6e-06	809	847
EGF	smart00181	2.8e-07	812	847
EGF	smart00181	0.00081	852	888
EGF_CA	smart00179	2e-06	890	926
EGF	smart00181	1.6e-05	893	926
EGF_CA	smart00179	2e-10	928	964
EGF	smart00181	2.5e-07	931	964
EGF_CA	smart00179	0.00025	966	1002
EGF	smart00181	0.00042	969	1002
EGF_CA	smart00179	9.6e-12	1004	1040
EGF	smart00181	2.9e-09	1007	1040
EGF_CA	smart00179	0.00081	1042	1077
EGF_CA	smart00179	1.2e-05	1079	1115
EGF	smart00181	2.5e-07	1082	1115
EGF_CA	smart00179	0.00024	1117	1159
EGF	smart00181	2e-05	1120	1159
EGF_CA	smart00179	5.3e-15	1161	1197
EGF	smart00181	2.5e-10	1164	1197
LamG	smart00282	1.2e-10	1903	2046
EGF	smart00181	5.3e-05	2102	2140
LamG	smart00282	3.3e-12	2171	2317
EGF	smart00181	5.9e-05	2338	2371
EGF	smart00181	0.00059	2374	2408
LamG	smart00282	1.4e-13	2442	2585
EGF	smart00181	0.00011	2613	2646
EGF	smart00181	3.5e-06	2651	2689
LamG	smart00282	6.3e-25	2716	2856
EGF	smart00181	2.4e-05	2915	2949
LamG	smart00282	5.3e-09	2978	3120

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs4710457	Polymorphism	p.ARG2326GLN	N/A
dbSNP	rs9353806	Polymorphism	p.ASN1902ILE	N/A
dbSNP	rs61753610	Polymorphism	p.GLN571ARG	N/A
dbSNP	rs12663622	Polymorphism	p.GLN1325GLU	N/A
dbSNP	rs17411795	Polymorphism	p.GLU641VAL	N/A
dbSNP	rs9342464	Polymorphism	p.GLY631SER	N/A
dbSNP	rs17404123	Polymorphism	p.ILE1263VAL	N/A
dbSNP	rs17403955	Polymorphism	p.ILE1361VAL	N/A
dbSNP	rs57312007	Polymorphism	p.LEU1748PHE	N/A
dbSNP	rs9294631	Polymorphism	p.LEU852PRO	N/A
dbSNP	rs624851	Polymorphism	p.LEU1419SER	N/A
dbSNP	rs16895517	Polymorphism	p.LEU1873VAL	N/A
dbSNP	rs114512007	Polymorphism	p.LYS2533GLU	N/A
dbSNP	rs66462731	Polymorphism	p.SER2556CYS	N/A
dbSNP	rs115066356	Polymorphism	p.THR1993ALA	N/A
dbSNP	rs12193967	Polymorphism	p.THR120MET	N/A
OMIM	612424.0004	Disease	p.GLU1953TER	RETINITIS PIGMENTOSA 25
OMIM	612424.0005	Disease	p.TYR3156TER	RETINITIS PIGMENTOSA 25

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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