Results for the protein: O95859

Results for the Protein: O95859

11135167

23554

TSPAN12

NCBI, UniProt

TSN12_HUMAN RecName: Full=Tetraspanin-12; Short=Tspan-12; AltName: Full=Tetraspan NET-2; AltName: Full=Transmembrane 4 superfamily member 12

Known Diseases associated with this Protein:
EXUDATIVE VITREORETINOPATHY 5
VITREORETINOPATHY, EXUDATIVE 5 (EVR5)

12

1

5

0

8

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:	Swiss-Prot Protein: O95859 Identical to: NP_036470 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_063579	Disease	p.ALA237PRO	Vitreoretinopathy, exudative 5 (EVR5)
Swiss-Prot	VAR_063577	Disease	p.GLY188ARG	Vitreoretinopathy, exudative 5 (EVR5)
Swiss-Prot	VAR_063576	Disease	p.LEU101HIS	Vitreoretinopathy, exudative 5 (EVR5)
Swiss-Prot	VAR_068901	Disease	p.LEU223PRO	Vitreoretinopathy, exudative 5 (EVR5)
Swiss-Prot	VAR_062253	Polymorphism	p.LEU57SER	N/A
Swiss-Prot	VAR_063578	Disease	p.MET210ARG	Vitreoretinopathy, exudative 5 (EVR5)
Swiss-Prot	VAR_068899	Disease	p.THR49MET	Vitreoretinopathy, exudative 5 (EVR5)
Swiss-Prot	VAR_068900	Disease	p.TYR138CYS	Vitreoretinopathy, exudative 5 (EVR5)
OMIM	613138.0001	Disease	p.ALA237PRO	EXUDATIVE VITREORETINOPATHY 5
OMIM	613138.0002	Disease	p.GLY188ARG	EXUDATIVE VITREORETINOPATHY 5
OMIM	613138.0006	Disease	p.LEU101HIS	EXUDATIVE VITREORETINOPATHY 5
OMIM	613138.0007	Disease	p.LEU245PRO	EXUDATIVE VITREORETINOPATHY 5
OMIM	613138.0004	Disease	p.LEU140TER	EXUDATIVE VITREORETINOPATHY 5

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