Results for the protein: Q8TE60

Results for the Protein: Q8TE60

296439427

170692

ADAMTS18

NCBI, UniProt

ATS18_HUMAN RecName: Full=A disintegrin and metalloproteinase with thrombospondin motifs 18; Short=ADAM-TS 18; Short=ADAM-TS18; Short=ADAMTS-18; Flags: Precursor

Known Diseases associated with this Protein:
MICROCORNEA, MYOPIC CHORIORETINAL ATROPHY, AND TELECANTHUS
RECLASSIFIED - VARIANT OF UNKNOWN SIGNIFICANCE

5

10

5

5

5

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: Pep_M12B_propep - pfam01562 ZnMc - cd00203 ZnMc_ADAMTS_like - cd04273 ZnMc_adamalysin_II_l - cd04269 ZnMc_ADAM_like - cd04267 ZnMc_salivary_gland_ - cd04272 Reprolysin - pfam01421 ZnMc_TACE_like - cd04270 ZnMc_ADAM_fungal - cd04271 ACR - smart00608 TSP1 - smart00209 TSP_1 - pfam00090 ADAM_spacer1 - pfam05986 PLAC - pfam08686	Swiss-Prot Protein: Q8TE60 Identical to: NP_955387 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
ZnMc_ADAM_like	cd04267	5.6e-33	293	487
ZnMc_adamalysin_II_l	cd04269	2.5e-21	293	496
ZnMc_salivary_gland_	cd04272	1e-08	293	495
ZnMc_ADAMTS_like	cd04273	3.7e-125	293	495
ZnMc_TACE_like	cd04270	0.00029	298	502
ZnMc_ADAM_fungal	cd04271	0.00039	299	495
Pep_M12B_propep	pfam01562	3.7e-51	34	203
Reprolysin	pfam01421	3.9e-21	295	498
TSP_1	pfam00090	3.6e-14	593	643
ACR	smart00608	0.00082	504	580
TSP1	smart00209	2.6e-19	592	644
ADAM_spacer1	pfam05986	5.7e-57	749	861
TSP1	smart00209	3.6e-05	934	992
TSP1	smart00209	1.4e-07	995	1049
TSP1	smart00209	6.4e-06	1127	1178
PLAC	pfam08686	7.6e-15	1187	1219

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs12935394	Polymorphism	p.ALA946SER	N/A
Swiss-Prot	VAR_036152	Polymorphism	p.ARG382LYS	N/A
dbSNP	rs11640912	Polymorphism	p.LEU626ILE	N/A
dbSNP	rs9930984	Polymorphism	p.LEU769ILE	N/A
Swiss-Prot	VAR_036153	Polymorphism	p.LYS455THR	N/A
Swiss-Prot	VAR_057085	Polymorphism	p.SER1080ARG	N/A
Swiss-Prot	VAR_066554	Polymorphism	p.SER179LEU	N/A
Swiss-Prot	VAR_057086	Polymorphism	p.SER1159THR	N/A
dbSNP	rs11643211	Polymorphism	p.TYR191HIS	N/A
dbSNP	rs112141546	Polymorphism	p.VAL201ILE	N/A
OMIM	607512.0002	Disease	p.CYS577TRP	MICROCORNEA, MYOPIC CHORIORETINAL ATROPHY, AND TELECANTHUS
OMIM	607512.0005	Disease	p.GLN33TER	MICROCORNEA, MYOPIC CHORIORETINAL ATROPHY, AND TELECANTHUS
OMIM	607512.0003	Disease	p.GLU689TER	MICROCORNEA, MYOPIC CHORIORETINAL ATROPHY, AND TELECANTHUS
OMIM	607512.0004	Disease	p.LEU202PRO	MICROCORNEA, MYOPIC CHORIORETINAL ATROPHY, AND TELECANTHUS
OMIM	607512.0001	Disease	p.SER179LEU	RECLASSIFIED - VARIANT OF UNKNOWN SIGNIFICANCE

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