Results for the protein: Q9NP85

Results for the Protein: Q9NP85

12230467

7827

NPHS2

NCBI, UniProt

PODO_HUMAN RecName: Full=Podocin

Known Diseases associated with this Protein:
  NEPHROTIC SYNDROME 2 (NPHS2)
  NEPHROTIC SYNDROME, TYPE 2
  NEPHROTIC SYNDROME, TYPE 2, SUSCEPTIBILITY TO

14

1

8

1

6

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: PHB - smart00244	Swiss-Prot Protein: Q9NP85 Identical to: NP_055440 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 ↕
dbSNP	rs61747727	Polymorphism	p.ALA242VAL	N/A
Swiss-Prot	VAR_010233	Disease	p.ARG138GLN	Nephrotic syndrome 2 (NPHS2)
Swiss-Prot	VAR_010236	Disease	p.ARG291TRP	Nephrotic syndrome 2 (NPHS2)
Swiss-Prot	VAR_010234	Disease	p.ASP160GLY	Nephrotic syndrome 2 (NPHS2)
Swiss-Prot	VAR_010232	Disease	p.GLY92CYS	Nephrotic syndrome 2 (NPHS2)
Swiss-Prot	VAR_010231	Disease	p.PRO20LEU	Nephrotic syndrome 2 (NPHS2)
Swiss-Prot	VAR_010235	Disease	p.VAL180MET	Nephrotic syndrome 2 (NPHS2)
OMIM	604766.0001	Disease	p.ARG138GLN	NEPHROTIC SYNDROME, TYPE 2
OMIM	604766.0011	Disease	p.ARG229GLN	NEPHROTIC SYNDROME, TYPE 2, SUSCEPTIBILITY TO
OMIM	604766.0002	Disease	p.ARG138TER	NEPHROTIC SYNDROME, TYPE 2
OMIM	604766.0010	Disease	p.ARG291TRP	NEPHROTIC SYNDROME, TYPE 2
OMIM	604766.0008	Disease	p.ASP160GLY	NEPHROTIC SYNDROME, TYPE 2
OMIM	604766.0007	Disease	p.GLY92CYS	NEPHROTIC SYNDROME, TYPE 2
OMIM	604766.0006	Disease	p.PRO20LEU	NEPHROTIC SYNDROME, TYPE 2
OMIM	604766.0009	Disease	p.VAL180MET	NEPHROTIC SYNDROME, TYPE 2

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