Results for the protein: Q6V0I7

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
CA_like	cd00031	3e-64	362	574
CA_like	cd00031	4.8e-68	587	785
CA_like	cd00031	9.3e-57	797	988
CA_like	cd00031	2.7e-56	1000	1202
CA_like	cd00031	7.4e-75	1214	1412
CA_like	cd00031	2.1e-44	1424	1623
CA_like	cd00031	7.3e-48	1633	1833
CA_like	cd00031	3.1e-61	1845	2043
CA_like	cd00031	4.3e-72	2054	2251
CA_like	cd00031	7.1e-64	2263	2458
CA_like	cd00031	4.8e-30	2470	2661
CA_like	cd00031	1.3e-60	2673	2864
CA_like	cd00031	5.1e-54	2876	3081
CA_like	cd00031	7.4e-69	3093	3290
CA_like	cd00031	8e-56	3302	3502
CA_like	cd00031	5.9e-31	3512	3703
EGF_CA	cd00054	7.7e-18	3862	3898
EGF	cd00053	3.9e-13	3865	3898
EGF_CA	cd00054	7.4e-17	3900	3936
EGF	cd00053	6e-12	3903	3936
EGF_CA	cd00054	3e-06	3938	3974
EGF	cd00053	9.5e-05	3943	3974
LamG	cd00110	5.1e-21	3977	4140
EGF_CA	cd00054	0.00046	4162	4198
EGF	cd00053	2.7e-07	4165	4198
LamG	cd00110	3e-14	4206	4372
EGF_CA	cd00054	4.6e-06	4426	4463
EGF	cd00053	2.2e-08	4429	4463
Cadherin	pfam00028	0.00019	47	126
Cadherin	pfam00028	1.7e-17	140	241
Cadherin	pfam00028	2.5e-28	255	344
Cadherin	pfam00028	6e-21	363	466
Cadherin	pfam00028	2e-25	480	573
Cadherin	pfam00028	1.6e-27	588	680
Cadherin	pfam00028	7.3e-27	694	782
Cadherin	pfam00028	1.9e-17	798	884
Cadherin	pfam00028	1.1e-18	898	987
Cadherin	pfam00028	1.6e-26	1001	1091
Cadherin	pfam00028	1.4e-14	1105	1201
Cadherin	pfam00028	3.6e-27	1215	1306
Cadherin	pfam00028	8.8e-28	1320	1411
Cadherin	pfam00028	1.2e-19	1425	1520
Cadherin	pfam00028	8e-13	1534	1622
Cadherin	pfam00028	3.6e-05	1634	1731
Cadherin	pfam00028	6.9e-22	1745	1832
Cadherin	pfam00028	7.7e-21	1846	1935
Cadherin	pfam00028	5.2e-25	1949	2042
Cadherin	pfam00028	3.3e-29	2055	2145
Cadherin	pfam00028	5e-31	2159	2250
Cadherin	pfam00028	1.4e-21	2264	2355
Cadherin	pfam00028	3.8e-24	2369	2457
Cadherin	pfam00028	3.4e-13	2471	2559
Cadherin	pfam00028	2.8e-11	2572	2660
Cadherin	pfam00028	4.8e-26	2674	2764
Cadherin	pfam00028	1.6e-16	2777	2863
Cadherin	pfam00028	3.5e-18	2877	2974
Cadherin	pfam00028	1.8e-16	2988	3080
Cadherin	pfam00028	2.4e-26	3094	3185
Cadherin	pfam00028	3.1e-21	3199	3289
Cadherin	pfam00028	2.3e-19	3303	3396
Cadherin	pfam00028	1.1e-28	3409	3501
Cadherin	pfam00028	1e-21	3513	3605
EGF	pfam00008	2.2e-07	3866	3896
EGF	pfam00008	1.9e-06	3904	3934
Laminin_G_1	pfam00054	4.6e-15	4002	4145
Laminin_G_2	pfam02210	1.3e-20	4002	4142
EGF	pfam00008	9.4e-06	4166	4196
Laminin_G_1	pfam00054	1.2e-05	4250	4377
Laminin_G_2	pfam02210	1.6e-22	4250	4374
EGF	pfam00008	4.1e-06	4430	4461
CA	smart00112	6.6e-07	64	133
CA	smart00112	3.8e-20	160	248
CA	smart00112	1.7e-29	275	351
CA	smart00112	2.1e-19	383	473
CA	smart00112	4e-25	500	580
CA	smart00112	9.5e-28	608	687
CA	smart00112	2.9e-26	714	791
CA	smart00112	1.1e-17	818	891
CA	smart00112	5.8e-25	918	994
CA	smart00112	1.7e-26	1021	1098
CA	smart00112	4.9e-19	1125	1208
CA	smart00112	3.5e-30	1235	1313
CA	smart00112	1.9e-31	1340	1418
CA	smart00112	2.7e-20	1445	1527
CA	smart00112	4.9e-10	1553	1628
CA	smart00112	2.5e-09	1653	1738
CA	smart00112	3.6e-25	1765	1839
CA	smart00112	1.2e-22	1866	1942
CA	smart00112	5.7e-26	1969	2049
CA	smart00112	2.2e-29	2075	2152
CA	smart00112	4.6e-31	2179	2257
CA	smart00112	2.1e-23	2285	2362
CA	smart00112	1.9e-27	2389	2464
CA	smart00112	5.1e-08	2491	2566
CA	smart00112	3.1e-21	2590	2667
CA	smart00112	8.7e-30	2693	2771
CA	smart00112	2.1e-22	2797	2870
CA	smart00112	3.3e-19	2897	2981
CA	smart00112	4.3e-19	3009	3087
CA	smart00112	4.6e-28	3114	3192
CA	smart00112	6.9e-19	3219	3296
CA	smart00112	7.5e-17	3323	3403
CA	smart00112	1.6e-28	3429	3508
CA	smart00112	2e-20	3533	3612
EGF_CA	pfam07645	4.7e-10	3862	3897
EGF_CA	smart00179	4.8e-18	3862	3898
EGF	smart00181	5.9e-12	3865	3898
EGF_CA	pfam07645	3.7e-09	3900	3935
EGF_CA	smart00179	1.3e-17	3900	3936
EGF	smart00181	4.3e-11	3903	3936
EGF_CA	smart00179	0.00035	3938	3974
EGF	smart00181	0.0003	3941	3974
LamG	smart00282	1.2e-19	3994	4142
EGF	smart00181	2e-05	4165	4198
LamG	smart00282	3.8e-19	4242	4374
EGF_CA	smart00179	0.00094	4429	4463
EGF	smart00181	3.6e-07	4429	4463

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_039866	Polymorphism	p.ALA4977THR	N/A
dbSNP	rs1039808	Polymorphism	p.ALA807VAL	N/A
dbSNP	rs12508222	Polymorphism	p.ASP2826ASN	N/A
dbSNP	rs36052762	Polymorphism	p.GLN1257GLU	N/A
dbSNP	rs6847454	Polymorphism	p.GLN453LEU	N/A
Swiss-Prot	VAR_039864	Polymorphism	p.GLU4374LYS	N/A
dbSNP	rs1567047	Polymorphism	p.GLY3524ASP	N/A
dbSNP	rs73849225	Polymorphism	p.HIS3215TYR	N/A
dbSNP	rs76048257	Polymorphism	p.ILE2946VAL	N/A
dbSNP	rs17009684	Polymorphism	p.LYS3828GLU	N/A
Swiss-Prot	VAR_039865	Polymorphism	p.PRO4972SER	N/A
Swiss-Prot	VAR_039863	Polymorphism	p.SER3873ASN	N/A
dbSNP	rs77145229	Polymorphism	p.SER4456LEU	N/A
dbSNP	rs75380987	Polymorphism	p.SER3800PHE	N/A
OMIM	612411.0006	Disease	p.ARG3819TER	VAN MALDERGEM SYNDROME 2
OMIM	612411.0001	Disease	p.CYS4159PHE	VAN MALDERGEM SYNDROME 2
OMIM	612411.0002	Disease	p.CYS4398TYR	VAN MALDERGEM SYNDROME 2
OMIM	612411.0003	Disease	p.GLU2375LYS	VAN MALDERGEM SYNDROME 2
OMIM	612411.0004	Disease	p.GLU3161TER	VAN MALDERGEM SYNDROME 2

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.

DMDM_info@umbc.edu | 1000 Hilltop Circle, Baltimore, MD 21250 | Department of Biological Sciences | Phone: 410-455-2258