Results for the protein: Q96JQ0

Results for the Protein: Q96JQ0

20139065

8642

DCHS1

NCBI, UniProt

PCD16_HUMAN RecName: Full=Protocadherin-16; AltName: Full=Cadherin-19; AltName: Full=Cadherin-25; AltName: Full=Fibroblast cadherin-1; AltName: Full=Protein dachsous homolog 1; Flags: Precursor

Known Diseases associated with this Protein:
VAN MALDERGEM SYNDROME 1

2

8

2

6

2

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: CA - smart00112	Swiss-Prot Protein: Q96JQ0 Identical to: NP_003728 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
CA	smart00112	1.6e-18	168	253
CA	smart00112	9.3e-28	280	360
CA	smart00112	8.6e-25	391	470
CA	smart00112	2e-33	498	576
CA	smart00112	2.8e-23	603	683
CA	smart00112	1.7e-10	710	788
CA	smart00112	2.2e-12	815	892
CA	smart00112	6.3e-13	919	996
CA	smart00112	9.8e-16	1022	1103
CA	smart00112	1.7e-33	1130	1209
CA	smart00112	3.3e-14	1242	1319
CA	smart00112	2.6e-09	1354	1434
CA	smart00112	5.4e-21	1461	1544
CA	smart00112	1.3e-31	1570	1647
CA	smart00112	2.2e-29	1674	1749
CA	smart00112	8.6e-28	1775	1853
CA	smart00112	3.6e-28	1880	1958
CA	smart00112	0.00029	1989	2066
CA	smart00112	1.7e-17	2091	2169
CA	smart00112	3e-25	2196	2275
CA	smart00112	1.2e-17	2301	2374
CA	smart00112	2.2e-19	2401	2480
CA	smart00112	4.9e-20	2507	2600
CA	smart00112	3.7e-24	2627	2704
CA	smart00112	9.2e-17	2731	2811

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs2659875	Polymorphism	p.ARG2359CYS	N/A
dbSNP	rs35599968	Polymorphism	p.ARG2827PRO	N/A
dbSNP	rs2659874	Polymorphism	p.ARG2091THR	N/A
Swiss-Prot	VAR_036110	Polymorphism	p.ARG1583TRP	N/A
Swiss-Prot	VAR_061074	Polymorphism	p.LEU2172GLN	N/A
dbSNP	rs7109028	Polymorphism	p.PRO1961LEU	N/A
dbSNP	rs4758443	Polymorphism	p.THR1949MET	N/A
dbSNP	rs7924553	Polymorphism	p.VAL2331ILE	N/A
OMIM	603057.0003	Disease	p.ASN2370ILE	VAN MALDERGEM SYNDROME 1
OMIM	603057.0001	Disease	p.GLY835TER	VAN MALDERGEM SYNDROME 1

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