Results for the protein: Q96KN7

Results for the Protein: Q96KN7

296452882

57096

RPGRIP1

NCBI, UniProt

RPGR1_HUMAN RecName: Full=X-linked retinitis pigmentosa GTPase regulator-interacting protein 1; Short=RPGR-interacting protein 1

Known Diseases associated with this Protein:
  CONE-ROD DYSTROPHY 13
  CONE-ROD DYSTROPHY 13 (CORD13)
  LEBER CONGENITAL AMAUROSIS 6
  LEBER CONGENITAL AMAUROSIS 6 (LCA6)

9

29

4

5

29

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Default View: DUF3250 - pfam11618 C2 - pfam00168 C2 - cd00030	Swiss-Prot Protein: Q96KN7 Identical to: NP_065099 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
C2	pfam00168	0.00098	801	890
DUF3250	pfam11618	2e-80	617	756

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_065728	Polymorphism	p.ALA635GLY	N/A
Swiss-Prot	VAR_065734	Polymorphism	p.ALA837GLY	N/A
Swiss-Prot	VAR_057773	Polymorphism	p.ALA960PRO	N/A
dbSNP	rs10151259	Disease	p.ALA547SER	Cone-rod dystrophy 13 (CORD13)
Swiss-Prot	VAR_065736	Polymorphism	p.ALA841THR	N/A
Swiss-Prot	VAR_065722	Polymorphism	p.ALA318VAL	N/A
Swiss-Prot	VAR_065730	Polymorphism	p.ALA764VAL	N/A
Swiss-Prot	VAR_065726	Polymorphism	p.ARG598GLN	N/A
Swiss-Prot	VAR_065737	Polymorphism	p.ARG852GLN	N/A
Swiss-Prot	VAR_065732	Polymorphism	p.ARG812HIS	N/A
Swiss-Prot	VAR_065733	Polymorphism	p.ARG814LEU	N/A
Swiss-Prot	VAR_017834	Disease	p.ARG827LEU	Cone-rod dystrophy 13 (CORD13)
Swiss-Prot	VAR_065723	Polymorphism	p.ARG363THR	N/A
dbSNP	rs17103671	Disease	p.ASP1114GLY	Leber congenital amaurosis 6 (LCA6)
Swiss-Prot	VAR_065727	Polymorphism	p.CYS603SER	N/A
Swiss-Prot	VAR_065725	Polymorphism	p.GLN589HIS	N/A
dbSNP	rs3748361	Polymorphism	p.GLU1033GLN	N/A
Swiss-Prot	VAR_067188	Polymorphism	p.GLU1130GLN	N/A
Swiss-Prot	VAR_065738	Polymorphism	p.GLY883ASP	N/A
dbSNP	rs34725281	Polymorphism	p.GLY1240GLU	N/A
Swiss-Prot	VAR_017833	Disease	p.GLY746GLU	Leber congenital amaurosis 6 (LCA6)
Swiss-Prot	VAR_067187	Polymorphism	p.HIS1057LEU	N/A
Swiss-Prot	VAR_067186	Disease	p.HIS631PRO	Leber congenital amaurosis 6 (LCA6)
Swiss-Prot	VAR_065735	Polymorphism	p.ILE838VAL	N/A
dbSNP	rs6571751	Polymorphism	p.LYS192GLU	N/A
Swiss-Prot	VAR_065720	Polymorphism	p.MET32LEU	N/A
Swiss-Prot	VAR_057772	Polymorphism	p.PRO96GLN	N/A
Swiss-Prot	VAR_065724	Polymorphism	p.PRO585SER	N/A
Swiss-Prot	VAR_065721	Polymorphism	p.SER135ARG	N/A
Swiss-Prot	VAR_017832	Polymorphism	p.SER601LEU	N/A
Swiss-Prot	VAR_067184	Polymorphism	p.SER432PHE	N/A
Swiss-Prot	VAR_067185	Polymorphism	p.SER601TRP	N/A
Swiss-Prot	VAR_065729	Polymorphism	p.THR638ILE	N/A
Swiss-Prot	VAR_065731	Polymorphism	p.THR806ILE	N/A
OMIM	605446.0006	Disease	p.ALA547SER	CONE-ROD DYSTROPHY 13
OMIM	605446.0005	Disease	p.ARG827LEU	CONE-ROD DYSTROPHY 13
OMIM	605446.0007	Disease	p.ASP1114GLY	LEBER CONGENITAL AMAUROSIS 6
OMIM	605446.0002	Disease	p.TRP65TER	LEBER CONGENITAL AMAUROSIS 6

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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