Results for the protein: O95450

Results for the Protein: O95450

218511944

9509

ADAMTS2

NCBI, UniProt

ATS2_HUMAN RecName: Full=A disintegrin and metalloproteinase with thrombospondin motifs 2; Short=ADAM-TS 2; Short=ADAM-TS2; Short=ADAMTS-2; AltName: Full=Procollagen I N-proteinase; Short=PC I-NP; AltName: Full=Procollagen I/II amino propeptide-processing enzyme; AltName: Full=Procollagen N-endopeptidase; Short=pNPI; Flags: Precursor

Known Diseases associated with this Protein:
EHLERS-DANLOS SYNDROME, TYPE VIIC

2

9

2

5

4

Tips:

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

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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_ADAM_like - cd04267 ZnMc_adamalysin_II_l - cd04269 ZnMc_salivary_gland_ - cd04272 Reprolysin - pfam01421 TSP1 - smart00209 TSP_1 - pfam00090 ADAM_spacer1 - pfam05986 PLAC - pfam08686	Swiss-Prot Protein: O95450 Identical to: NP_055059 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
ZnMc_adamalysin_II_l	cd04269	1.3e-12	266	468
ZnMc_salivary_gland_	cd04272	1.5e-06	266	467
ZnMc_ADAM_like	cd04267	7.7e-17	266	461
ZnMc_ADAMTS_like	cd04273	8.2e-109	266	467
Pep_M12B_propep	pfam01562	2.3e-40	12	212
Reprolysin	pfam01421	6.9e-14	268	470
TSP_1	pfam00090	6.6e-10	565	615
TSP_1	pfam00090	0.00054	977	1028
TSP1	smart00209	4.3e-19	564	616
ADAM_spacer1	pfam05986	2.2e-55	723	837
TSP1	smart00209	0.0009	855	914
TSP1	smart00209	1.5e-05	917	976
TSP1	smart00209	1.9e-07	978	1029
PLAC	pfam08686	0.0003	1062	1095

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_047931	Polymorphism	p.ARG827GLN	N/A
dbSNP	rs11750821	Polymorphism	p.ARG241HIS	N/A
dbSNP	rs59567206	Polymorphism	p.ASP234GLY	N/A
Swiss-Prot	VAR_047929	Polymorphism	p.GLU331LYS	N/A
Swiss-Prot	VAR_047930	Polymorphism	p.GLY665ARG	N/A
dbSNP	rs117187367	Polymorphism	p.GLY1169VAL	N/A
Swiss-Prot	VAR_020059	Polymorphism	p.PRO1177SER	N/A
dbSNP	rs398829	Polymorphism	p.VAL245ILE	N/A
dbSNP	rs2271211	Polymorphism	p.VAL74MET	N/A
OMIM	604539.0001	Disease	p.GLN225TER	EHLERS-DANLOS SYNDROME, TYPE VIIC
OMIM	604539.0002	Disease	p.TRP795TER	EHLERS-DANLOS SYNDROME, TYPE VIIC

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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