Results for the protein: Q9NZC2

Results for the Protein: Q9NZC2

50401689

54209

TREM2

NCBI, UniProt

TREM2_HUMAN RecName: Full=Triggering receptor expressed on myeloid cells 2; Short=TREM-2; AltName: Full=Triggering receptor expressed on monocytes 2; Flags: Precursor

Known Diseases associated with this Protein:
POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY
POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY (PLOSL)

8

4

6

2

4

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: V-set - pfam07686 Ig_pIgR - cd05716	Swiss-Prot Protein: Q9NZC2 Identical to: NP_061838 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
V-set	pfam07686	3e-05	23	128

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_019334	Disease	p.ASP134GLY	Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLOSL)
Swiss-Prot	VAR_033625	Polymorphism	p.HIS157TYR	N/A
dbSNP	rs2234256	Polymorphism	p.LEU211PRO	N/A
Swiss-Prot	VAR_019335	Disease	p.LYS186ASN	Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLOSL)
dbSNP	rs2234253	Polymorphism	p.THR96ARG	N/A
Swiss-Prot	VAR_061329	Polymorphism	p.THR96LYS	N/A
OMIM	605086.0003	Disease	p.ASP134GLY	POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY
OMIM	605086.0007	Disease	p.GLN33TER	POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY
OMIM	605086.0002	Disease	p.LYS186ASN	POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY
OMIM	605086.0005	Disease	p.TRP44TER	POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY
OMIM	605086.0001	Disease	p.TRP78TER	POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY
OMIM	605086.0006	Disease	p.VAL126GLY	POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY

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