Results for the protein: Q92834

Results for the Protein: Q92834

23503098

6103

RPGR

NCBI, UniProt

RPGR_HUMAN RecName: Full=X-linked retinitis pigmentosa GTPase regulator; Flags: Precursor

Known Diseases associated with this Protein:
RETINITIS PIGMENTOSA 3 (RP3)
RETINITIS PIGMENTOSA AND SINORESPIRATORY INFECTIONS WITH OR WITHOUT DEAFNESS (RPDSI)

24

9

0

0

33

Tips:

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Default View: ATS1 - COG5184 RCC1 - pfam00415	Swiss-Prot Protein: Q92834 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
RCC1	pfam00415	6.4e-13	53	102
RCC1	pfam00415	1.1e-06	105	155
RCC1	pfam00415	7.3e-15	158	205
RCC1	pfam00415	4.6e-13	208	258
RCC1	pfam00415	5.3e-14	260	310
RCC1	pfam00415	1.3e-05	313	364

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_008507	Polymorphism	p.ALA262GLY	N/A
Swiss-Prot	VAR_018059	Disease	p.ARG127GLY	Retinitis pigmentosa 3 (RP3)
Swiss-Prot	VAR_008508	Polymorphism	p.ARG425LYS	N/A
Swiss-Prot	VAR_018068	Polymorphism	p.ASN345ASP	N/A
Swiss-Prot	VAR_018065	Disease	p.ASP312ASN	Retinitis pigmentosa 3 (RP3)
Swiss-Prot	VAR_018066	Disease	p.ASP312TYR	Retinitis pigmentosa 3 (RP3)
Swiss-Prot	VAR_008506	Disease	p.CYS250ARG	Retinitis pigmentosa 3 (RP3)
Swiss-Prot	VAR_011561	Disease	p.CYS302ARG	Retinitis pigmentosa 3 (RP3)
Swiss-Prot	VAR_018061	Disease	p.CYS250TYR	Retinitis pigmentosa 3 (RP3)
Swiss-Prot	VAR_018064	Disease	p.CYS302TYR	Retinitis pigmentosa 3 (RP3)
Swiss-Prot	VAR_033259	Polymorphism	p.GLN184HIS	N/A
Swiss-Prot	VAR_026128	Disease	p.GLU285GLY	Retinitis pigmentosa 3 (RP3)
Swiss-Prot	VAR_018060	Disease	p.GLY173ARG	Retinitis pigmentosa and sinorespiratory infections with or without deafness (RPDSI)
Swiss-Prot	VAR_026127	Disease	p.GLY267ARG	Retinitis pigmentosa 3 (RP3)
Swiss-Prot	VAR_018067	Disease	p.GLY320ARG	Retinitis pigmentosa 3 (RP3)
Swiss-Prot	VAR_018058	Disease	p.GLY43ARG	Retinitis pigmentosa 3 (RP3)
Swiss-Prot	VAR_008510	Disease	p.GLY436ASP	Retinitis pigmentosa 3 (RP3)
Swiss-Prot	VAR_018063	Disease	p.GLY267GLU	Retinitis pigmentosa 3 (RP3)
Swiss-Prot	VAR_018057	Disease	p.GLY43GLU	Retinitis pigmentosa 3 (RP3)
Swiss-Prot	VAR_008511	Polymorphism	p.GLY566GLU	N/A
Swiss-Prot	VAR_006852	Disease	p.GLY275SER	Retinitis pigmentosa 3 (RP3)
Swiss-Prot	VAR_008505	Disease	p.GLY215VAL	Retinitis pigmentosa 3 (RP3)
Swiss-Prot	VAR_008501	Disease	p.GLY60VAL	Retinitis pigmentosa 3 (RP3)
Swiss-Prot	VAR_008504	Disease	p.HIS98GLN	Retinitis pigmentosa 3 (RP3)
Swiss-Prot	VAR_013626	Disease	p.ILE289VAL	Retinitis pigmentosa 3 (RP3)
Swiss-Prot	VAR_008509	Polymorphism	p.ILE431VAL	N/A
Swiss-Prot	VAR_008503	Polymorphism	p.ILE75VAL	N/A
Swiss-Prot	VAR_006850	Disease	p.PHE130CYS	Retinitis pigmentosa 3 (RP3)
Swiss-Prot	VAR_006851	Disease	p.PRO235SER	Retinitis pigmentosa 3 (RP3)
Swiss-Prot	VAR_013624	Polymorphism	p.SER76ILE	N/A
Swiss-Prot	VAR_025949	Disease	p.SER152LEU	Retinitis pigmentosa 3 (RP3)
Swiss-Prot	VAR_013625	Disease	p.THR99ASN	Retinitis pigmentosa 3 (RP3)
Swiss-Prot	VAR_011563	Polymorphism	p.THR533MET	N/A

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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