Results for the protein: Q68CZ1

Results for the Protein: Q68CZ1

296434514

23322

RPGRIP1L

NCBI, UniProt

FTM_HUMAN RecName: Full=Protein fantom; AltName: Full=Nephrocystin-8; AltName: Full=RPGR-interacting protein 1-like protein; Short=RPGRIP1-like protein

Known Diseases associated with this Protein:
  COACH SYNDROME
  COACH SYNDROME (COACHS)
  JOUBERT SYNDROME 7
  JOUBERT SYNDROME 7 (JBTS7)
  MECKEL SYNDROME 5 (MKS5)
  MECKEL SYNDROME, TYPE 5
  RETINITIS PIGMENTOSA IN CILIOPATHIES, MODIFIER OF

16

12

11

4

13

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: DUF3250 - pfam11618 C2 - smart00239	Swiss-Prot Protein: Q68CZ1 Identical to: NP_056087 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
C2	smart00239	1.1e-07	791	896

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_065556	Polymorphism	p.ALA1183GLY	N/A
Swiss-Prot	VAR_039395	Disease	p.ALA695PRO	Joubert syndrome 7 (JBTS7)
dbSNP	rs61747071	Polymorphism	p.ALA229THR	N/A
Swiss-Prot	VAR_066482	Disease	p.ARG1236CYS	Meckel syndrome 5 (MKS5)
dbSNP	rs2302677	Polymorphism	p.ARG744GLN	N/A
Swiss-Prot	VAR_066481	Polymorphism	p.ARG937LEU	N/A
dbSNP	rs3213758	Polymorphism	p.ASP1264ASN	N/A
Swiss-Prot	VAR_066483	Polymorphism	p.ASP1264TYR	N/A
Swiss-Prot	VAR_069234	Disease	p.GLN550ARG	Joubert syndrome 7 (JBTS7)
dbSNP	rs2111119	Polymorphism	p.GLY1025SER	N/A
Swiss-Prot	VAR_066479	Polymorphism	p.LEU546PHE	N/A
Swiss-Prot	VAR_066478	Polymorphism	p.LEU447SER	N/A
Swiss-Prot	VAR_066476	Polymorphism	p.SER199GLY	N/A
Swiss-Prot	VAR_063805	Disease	p.SER659PRO	COACH syndrome (COACHS)
Swiss-Prot	VAR_039394	Polymorphism	p.THR677ILE	N/A
Swiss-Prot	VAR_039393	Disease	p.THR615PRO	Joubert syndrome 7 (JBTS7)
Swiss-Prot	VAR_066480	Polymorphism	p.VAL647ILE	N/A
OMIM	610937.0004	Disease	p.ALA695PRO	JOUBERT SYNDROME 7
OMIM	610937.0013	Disease	p.ALA229THR	RETINITIS PIGMENTOSA IN CILIOPATHIES, MODIFIER OF
OMIM	610937.0005	Disease	p.ARG132TER	MECKEL SYNDROME, TYPE 5
OMIM	610937.0011	Disease	p.ARG805TER	COACH SYNDROME
OMIM	610937.0003	Disease	p.GLN253TER	JOUBERT SYNDROME 7
OMIM	610937.0006	Disease	p.GLN345TER	MECKEL SYNDROME, TYPE 5
OMIM	610937.0009	Disease	p.GLN684TER	JOUBERT SYNDROME 7
OMIM	610937.0007	Disease	p.GLN872TER	MECKEL SYNDROME, TYPE 5
OMIM	610937.0001	Disease	p.LYS233TER	JOUBERT SYNDROME 7
OMIM	610937.0012	Disease	p.SER659PRO	COACH SYNDROME
OMIM	610937.0002	Disease	p.THR615PRO	JOUBERT SYNDROME 7

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