Results for the protein: Q96MS0

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
Ig1_Contactin	cd04967	4.1e-05	64	158
Ig1_Contactin-5	cd05848	0.00058	64	161
Ig1_Neogenin	cd05722	4.4e-17	65	161
Ig4_Contactin-2-like	cd05728	7.5e-05	67	161
Ig2_Robo	cd05724	4e-08	68	161
Ig2_FGFR_like	cd05729	0.0002	70	163
Ig3_Peroxidasin	cd05745	0.00028	77	161
Ig5_Contactin_like	cd04969	1.7e-05	78	161
Ig4_L1-NrCAM_like	cd04978	2.6e-09	78	162
Ig_2	cd05764	0.00085	78	163
Ig4_L1-CAM_like	cd05867	2.5e-05	78	162
Ig4_NrCAM	cd05868	0.0003	78	158
Ig	cd00096	1.2e-09	81	158
Ig3_Robo	cd05725	0.00038	81	161
Ig6_L1-CAM_like	cd05733	3.9e-06	81	160
Ig2_RPTP_IIa_LAR_lik	cd05738	0.00019	81	162
Ig_1	cd05763	3e-08	81	162
Ig6_NrCAM	cd05874	1e-06	81	160
Ig6_hNeurofascin_lik	cd05875	6.7e-05	81	160
Ig1_Neogenin	cd05722	2.4e-05	167	254
Ig4_Contactin-2-like	cd05728	4.6e-08	167	254
Ig3_NCAM-1_like	cd05730	2.4e-06	167	257
Ig1_Contactin	cd04967	9.6e-05	168	251
Ig_Semaphorin_C	cd04979	0.00023	170	257
Ig2_Robo	cd05724	3.4e-46	170	254
Ig1_Robo	cd07693	1.3e-06	172	255
Ig2_FGFR_like	cd05729	8.9e-06	174	254
Ig2_FGFRL1-like	cd05856	0.00023	174	254
Ig5_Contactin_like	cd04969	3e-07	180	253
Ig4_L1-NrCAM_like	cd04978	5.4e-05	180	255
Ig_2	cd05764	0.00014	180	254
Ig	cd00096	3.4e-10	183	251
Ig3_Robo	cd05725	3.2e-05	183	254
Ig2_RPTP_IIa_LAR_lik	cd05738	6.8e-05	183	255
Ig_1	cd05763	5.8e-05	183	255
Ig5_NCAM-1_like	cd05732	0.00065	254	343
Ig5_Titin_like	cd05747	5.5e-05	257	342
Ig3_Contactin-1	cd05851	7.8e-05	257	344
Ig3_Contactin_like	cd04968	8.8e-11	258	344
Ig3_NCAM-1_like	cd05730	5.3e-06	258	346
Ig1_Neogenin	cd05722	0.0001	259	337
Ig4_Contactin-2-like	cd05728	0.00013	259	343
Ig2_Robo	cd05724	3e-08	262	343
Ig2_FGFRL1-like	cd05856	0.00034	262	343
Ig2_FGFR_like	cd05729	1.6e-09	263	343
Ig2_FGFR	cd05857	1.2e-05	267	343
Ig_C5_MyBP-C	cd05894	0.00022	268	345
Ig3_Peroxidasin	cd05745	1.5e-08	271	343
Ig5_Contactin_like	cd04969	2.1e-10	272	343
Ig5_Contactin-1	cd05852	2.6e-07	272	343
Ig_Titin_like	cd05748	3.5e-05	274	345
Ig4_Neogenin	cd05723	3.4e-12	274	343
Ig_2	cd05764	3.4e-05	274	343
Ig	cd00096	2.6e-15	275	342
Ig3_Robo	cd05725	1.7e-41	275	343
Ig3_L1-CAM_like	cd05731	6.3e-09	275	346
Ig7_DSCAM	cd05734	0.0004	275	345
Ig2_Follistatin_like	cd05736	0.00053	275	346
Ig4_Peroxidasin	cd05746	6.1e-08	275	342
Ig_1	cd05763	1.3e-05	275	344
Ig3_L1-CAM	cd05876	4.3e-05	275	344
Ig_Pro_neuregulin	cd05750	6.5e-05	279	341
Ig5_NCAM-1_like	cd05732	0.00013	345	441
Ig3_Contactin_like	cd04968	5.4e-05	346	442
Ig1_Neogenin	cd05722	0.0006	348	441
Ig4_Contactin-2-like	cd05728	6.3e-06	348	441
Ig2_Robo	cd05724	2.2e-06	351	441
Ig2_FGFR_like	cd05729	3.6e-05	353	441
Ig2_FGFRL1-like	cd05856	0.00098	354	441
Ig3_Peroxidasin	cd05745	3.1e-13	360	441
Ig5_Contactin_like	cd04969	3.5e-06	361	441
Ig4_L1-NrCAM_like	cd04978	0.00054	361	442
Ig4_Robo	cd05726	8.4e-59	361	450
Ig_3	cd05765	7.4e-08	361	441
Ig4_Neogenin	cd05723	0.00018	363	441
Ig	cd00096	7.8e-08	364	438
Ig3_Robo	cd05725	9.8e-10	364	441
Ig4_Peroxidasin	cd05746	4.4e-08	364	440
Ig_1	cd05763	2.3e-06	364	442
Ig_Myomesin_like_C	cd05737	0.00042	443	534
Ig5_Titin_like	cd05747	0.00018	448	535
Ig3_Contactin_like	cd04968	8.1e-08	450	539
Ig3_NCAM-1_like	cd05730	2.2e-05	450	541
Ig1_Contactin	cd04967	2.2e-05	451	531
Ig1_Neogenin	cd05722	0.00024	452	530
Ig4_Contactin-2-like	cd05728	9.1e-06	454	538
Ig2_Robo	cd05724	1.9e-07	455	538
Ig2_FGFR_like	cd05729	5.2e-05	457	538
Ig2_FGFRL1-like	cd05856	0.00011	459	536
Ig5_Contactin_like	cd04969	1.5e-07	465	538
Ig4_L1-NrCAM_like	cd04978	0.00031	465	539
Ig4_Robo	cd05726	2.2e-05	465	550
Ig3_Peroxidasin	cd05745	5.5e-06	465	538
Ig_2	cd05764	0.00014	465	538
Ig4_Neogenin	cd05723	9.1e-06	467	538
Ig	cd00096	3.9e-11	468	535
Ig3_Robo	cd05725	9e-06	468	538
Ig4_Peroxidasin	cd05746	1.9e-07	468	537
Ig_1	cd05763	8.4e-06	468	539
Ig2_Follistatin_like	cd05736	0.0004	470	541
FN3	cd00063	2.6e-23	556	649
FN3	cd00063	1.4e-09	670	763
FN3	cd00063	1.4e-11	768	864
ig	pfam00047	0.00037	180	238
ig	pfam00047	1.5e-09	272	328
ig	pfam00047	1.6e-09	361	426
ig	pfam00047	6e-10	465	523
fn3	pfam00041	8.7e-14	557	641
fn3	pfam00041	4.4e-06	671	756
fn3	pfam00041	9.9e-10	770	857
I-set	pfam07679	2.1e-10	64	161
IG_like	smart00410	3.3e-15	70	162
IG	smart00409	3.3e-15	70	162
IGc2	smart00408	1.1e-12	77	150
I-set	pfam07679	1.9e-14	166	254
IG_like	smart00410	2.1e-15	172	255
IG	smart00409	2.1e-15	172	255
IGc2	smart00408	1.4e-11	179	243
I-set	pfam07679	3.1e-26	258	343
IG_like	smart00410	5.9e-20	264	344
IG	smart00409	5.9e-20	264	344
V-set	pfam07686	0.00094	266	343
IGc2	smart00408	2e-12	271	333
I-set	pfam07679	4e-15	347	441
IG_like	smart00410	5.9e-18	353	442
IG	smart00409	5.9e-18	353	442
V-set	pfam07686	0.00082	355	441
IGc2	smart00408	5.9e-13	360	431
I-set	pfam07679	1.5e-17	451	538
IG_like	smart00410	3.2e-17	457	539
IG	smart00409	3.2e-17	457	539
IGc2	smart00408	8.9e-16	464	528
FN3	smart00060	1.4e-16	556	638
FN3	smart00060	4.3e-08	670	753
FN3	smart00060	6.8e-08	769	854

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs3862618	Polymorphism	p.ARG416HIS	N/A
Swiss-Prot	VAR_019074	Disease	p.ARG703PRO	Familial horizontal gaze palsy with progressive scoliosis (HGPPS)
Swiss-Prot	VAR_034475	Polymorphism	p.GLN1369ARG	N/A
Swiss-Prot	VAR_019073	Disease	p.GLU319LYS	Familial horizontal gaze palsy with progressive scoliosis (HGPPS)
Swiss-Prot	VAR_019121	Disease	p.GLY361GLU	Familial horizontal gaze palsy with progressive scoliosis (HGPPS)
Swiss-Prot	VAR_019120	Disease	p.ILE66LEU	Familial horizontal gaze palsy with progressive scoliosis (HGPPS)
Swiss-Prot	VAR_019119	Disease	p.LEU5PRO	Familial horizontal gaze palsy with progressive scoliosis (HGPPS)
Swiss-Prot	VAR_062145	Polymorphism	p.PRO868LEU	N/A
Swiss-Prot	VAR_019075	Disease	p.SER705PRO	Familial horizontal gaze palsy with progressive scoliosis (HGPPS)
dbSNP	rs4935898	Polymorphism	p.VAL423MET	N/A
OMIM	608630.0003	Disease	p.ARG703PRO	GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS
OMIM	608630.0013	Disease	p.ARG245TRP	GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS
OMIM	608630.0014	Disease	p.GLN773TER	GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS
OMIM	608630.0006	Disease	p.GLU319LYS	GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS
OMIM	608630.0001	Disease	p.GLY361GLU	GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS
OMIM	608630.0005	Disease	p.GLY456TER	GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS
OMIM	608630.0009	Disease	p.ILE66LEU	GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS
OMIM	608630.0008	Disease	p.LEU5PRO	GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS
OMIM	608630.0004	Disease	p.SER705PRO	GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS

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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