Results for the protein: P08100

Results for the Protein: P08100

129207

6010

RHO

NCBI, UniProt

OPSD_HUMAN RecName: Full=Rhodopsin; AltName: Full=Opsin-2

Known Diseases associated with this Protein:
  NIGHT BLINDNESS, CONGENITAL STATIONARY, AUTOSOMAL DOMINANT 1
  NIGHT BLINDNESS, CONGENITAL STATIONARY, AUTOSOMAL DOMINANT 1 (CSNBAD1)
  RETINITIS PIGMENTOSA 4
  RETINITIS PIGMENTOSA 4 (RP4)
  RETINITIS PIGMENTOSA 4, AUTOSOMAL RECESSIVE
  RETINITIS PUNCTATA ALBESCENS, INCLUDED

109

3

40

0

72

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: Rhodopsin_N - pfam10413 7TM_GPCR_Srd - pfam10317 7TM_GPCR_Srw - pfam10324 7TM_GPCR_Srv - pfam10323	Swiss-Prot Protein: P08100 Identical to: NP_000530 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
7TM_GPCR_Srd	pfam10317	0.00043	40	315
7TM_GPCR_Srw	pfam10324	0.00016	42	324
7TM_GPCR_Srv	pfam10323	0.00021	43	323

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_004800	Disease	p.ALA164GLU	Retinitis pigmentosa 4 (RP4)
Swiss-Prot	VAR_004827	Disease	p.ALA292GLU	Night blindness, congenital stationary, autosomal dominant 1 (CSNBAD1)
Swiss-Prot	VAR_004801	Disease	p.ALA164VAL	Retinitis pigmentosa 4 (RP4)
Swiss-Prot	VAR_004795	Disease	p.ARG135GLY	Retinitis pigmentosa 4 (RP4)
Swiss-Prot	VAR_004796	Disease	p.ARG135LEU	Retinitis pigmentosa 4 (RP4)
Swiss-Prot	VAR_004797	Disease	p.ARG135TRP	Retinitis pigmentosa 4 (RP4)
Swiss-Prot	VAR_004766	Disease	p.ASN15SER	Retinitis pigmentosa 4 (RP4)
Swiss-Prot	VAR_004813	Disease	p.ASP190ASN	Retinitis pigmentosa 4 (RP4)
Swiss-Prot	VAR_004814	Disease	p.ASP190GLY	Retinitis pigmentosa 4 (RP4)
Swiss-Prot	VAR_004815	Disease	p.ASP190TYR	Retinitis pigmentosa 4 (RP4)
Swiss-Prot	VAR_004802	Disease	p.CYS167ARG	Retinitis pigmentosa 4 (RP4)
Swiss-Prot	VAR_004822	Disease	p.CYS222ARG	Retinitis pigmentosa 4 (RP4)
Swiss-Prot	VAR_004789	Disease	p.CYS110PHE	Retinitis pigmentosa 4 (RP4)
Swiss-Prot	VAR_004798	Disease	p.CYS140SER	Retinitis pigmentosa 4 (RP4)
Swiss-Prot	VAR_004790	Disease	p.CYS110TYR	Retinitis pigmentosa 4 (RP4)
Swiss-Prot	VAR_004770	Disease	p.GLN28HIS	Retinitis pigmentosa 4 (RP4)
Swiss-Prot	VAR_004799	Disease	p.GLU150LYS	Retinitis pigmentosa 4 (RP4)
Swiss-Prot	VAR_004808	Disease	p.GLU181LYS	Retinitis pigmentosa 4 (RP4)
Swiss-Prot	VAR_004775	Polymorphism	p.GLY51ALA	N/A
Swiss-Prot	VAR_004786	Disease	p.GLY106ARG	Retinitis pigmentosa 4 (RP4)
Swiss-Prot	VAR_004788	Disease	p.GLY109ARG	Retinitis pigmentosa 4 (RP4)
Swiss-Prot	VAR_004812	Disease	p.GLY188ARG	Retinitis pigmentosa 4 (RP4)
Swiss-Prot	VAR_004776	Disease	p.GLY51ARG	Retinitis pigmentosa 4 (RP4)
Swiss-Prot	VAR_004791	Disease	p.GLY114ASP	Retinitis pigmentosa 4 (RP4)
Swiss-Prot	VAR_004782	Disease	p.GLY89ASP	Retinitis pigmentosa 4 (RP4)
Swiss-Prot	VAR_004783	Disease	p.GLY90ASP	Night blindness, congenital stationary, autosomal dominant 1 (CSNBAD1)
Swiss-Prot	VAR_004811	Disease	p.GLY188GLU	Retinitis pigmentosa 4 (RP4)
Swiss-Prot	VAR_004809	Disease	p.GLY182SER	Retinitis pigmentosa 4 (RP4)
Swiss-Prot	VAR_004787	Disease	p.GLY106TRP	Retinitis pigmentosa 4 (RP4)
Swiss-Prot	VAR_004777	Disease	p.GLY51VAL	Retinitis pigmentosa 4 (RP4)
Swiss-Prot	VAR_004819	Disease	p.HIS211ARG	Retinitis pigmentosa 4 (RP4)
Swiss-Prot	VAR_004818	Disease	p.HIS211PRO	Retinitis pigmentosa 4 (RP4)
Swiss-Prot	VAR_068360	Disease	p.ILE214ASN	Retinitis pigmentosa 4 (RP4)
Swiss-Prot	VAR_004792	Disease	p.LEU125ARG	Retinitis pigmentosa 4 (RP4)
Swiss-Prot	VAR_004771	Disease	p.LEU40ARG	Retinitis pigmentosa 4 (RP4)
Swiss-Prot	VAR_004774	Disease	p.LEU46ARG	Retinitis pigmentosa 4 (RP4)
Swiss-Prot	VAR_004794	Disease	p.LEU131PRO	Retinitis pigmentosa 4 (RP4)
Swiss-Prot	VAR_004828	Disease	p.LYS296GLU	Retinitis pigmentosa 4 (RP4)
Swiss-Prot	VAR_004816	Disease	p.MET207ARG	Retinitis pigmentosa 4 (RP4)
Swiss-Prot	VAR_004820	Disease	p.MET216LYS	Retinitis pigmentosa 4 (RP4)
Swiss-Prot	VAR_004772	Disease	p.MET44THR	Retinitis pigmentosa 4 (RP4)
Swiss-Prot	VAR_004821	Disease	p.PHE220CYS	Retinitis pigmentosa 4 (RP4)
Swiss-Prot	VAR_004773	Disease	p.PHE45LEU	Retinitis pigmentosa 4 (RP4)
Swiss-Prot	VAR_004833	Disease	p.PRO347ALA	Retinitis pigmentosa 4 (RP4)
Swiss-Prot	VAR_004826	Disease	p.PRO267ARG	Retinitis pigmentosa 4 (RP4)
Swiss-Prot	VAR_004836	Disease	p.PRO347ARG	Retinitis pigmentosa 4 (RP4)
Swiss-Prot	VAR_004778	Disease	p.PRO53ARG	Retinitis pigmentosa 4 (RP4)
Swiss-Prot	VAR_004804	Disease	p.PRO171GLN	Retinitis pigmentosa 4 (RP4)
Swiss-Prot	VAR_004835	Disease	p.PRO347GLN	Retinitis pigmentosa 4 (RP4)
Swiss-Prot	VAR_004768	Disease	p.PRO23HIS	Retinitis pigmentosa 4 (RP4)
Swiss-Prot	VAR_004803	Disease	p.PRO171LEU	Retinitis pigmentosa 4 (RP4)
Swiss-Prot	VAR_004769	Disease	p.PRO23LEU	Retinitis pigmentosa 4 (RP4)
Swiss-Prot	VAR_004825	Disease	p.PRO267LEU	Retinitis pigmentosa 4 (RP4)
Swiss-Prot	VAR_004834	Disease	p.PRO347LEU	Retinitis pigmentosa 4 (RP4)
Swiss-Prot	VAR_004805	Disease	p.PRO171SER	Retinitis pigmentosa 4 (RP4)
Swiss-Prot	VAR_068359	Disease	p.PRO180SER	Retinitis pigmentosa 4 (RP4)
Swiss-Prot	VAR_004837	Disease	p.PRO347SER	Retinitis pigmentosa 4 (RP4)
Swiss-Prot	VAR_004829	Disease	p.SER297ARG	Retinitis pigmentosa 4 (RP4)
Swiss-Prot	VAR_004793	Disease	p.SER127PHE	Retinitis pigmentosa 4 (RP4)
Swiss-Prot	VAR_004810	Disease	p.SER186PRO	Retinitis pigmentosa 4 (RP4)
Swiss-Prot	VAR_004779	Disease	p.THR58ARG	Retinitis pigmentosa 4 (RP4)
Swiss-Prot	VAR_004784	Disease	p.THR94ILE	Night blindness, congenital stationary, autosomal dominant 1 (CSNBAD1)
Swiss-Prot	VAR_004765	Disease	p.THR4LYS	Retinitis pigmentosa 4 (RP4)
Swiss-Prot	VAR_004767	Disease	p.THR17MET	Retinitis pigmentosa 4 (RP4)
Swiss-Prot	VAR_004830	Disease	p.THR342MET	Retinitis pigmentosa 4 (RP4)
Swiss-Prot	VAR_004807	Disease	p.TYR178ASN	Retinitis pigmentosa 4 (RP4)
Swiss-Prot	VAR_004806	Disease	p.TYR178CYS	Retinitis pigmentosa 4 (RP4)
Swiss-Prot	VAR_004781	Disease	p.VAL87ASP	Retinitis pigmentosa 4 (RP4)
Swiss-Prot	VAR_004785	Polymorphism	p.VAL104ILE	N/A
Swiss-Prot	VAR_004831	Disease	p.VAL345LEU	Retinitis pigmentosa 4 (RP4)
Swiss-Prot	VAR_004817	Polymorphism	p.VAL209MET	N/A
Swiss-Prot	VAR_004832	Disease	p.VAL345MET	Retinitis pigmentosa 4 (RP4)
OMIM	180380.0037	Disease	p.ALA164GLU	RETINITIS PIGMENTOSA 4
OMIM	180380.0031	Disease	p.ALA292GLU	NIGHT BLINDNESS, CONGENITAL STATIONARY, AUTOSOMAL DOMINANT 1
OMIM	180380.0011	Disease	p.ARG135LEU	RETINITIS PIGMENTOSA 4
OMIM	180380.0028 180380.0030	Disease	p.ARG207MET	RETINITIS PIGMENTOSA 4
OMIM	180380.0012	Disease	p.ARG135TRP	RETINITIS PIGMENTOSA 4\|\|RETINITIS PUNCTATA ALBESCENS, INCLUDED
OMIM	180380.0029	Disease	p.ASN15SER	RETINITIS PIGMENTOSA 4
OMIM	180380.0017	Disease	p.ASP190ASN	RETINITIS PIGMENTOSA 4
OMIM	180380.0014	Disease	p.ASP190GLY	RETINITIS PIGMENTOSA 4
OMIM	180380.0027	Disease	p.ASP190TYR	RETINITIS PIGMENTOSA 4
OMIM	180380.0035	Disease	p.CYS110TYR	RETINITIS PIGMENTOSA 4
OMIM	180380.0015	Disease	p.GLN344TER	RETINITIS PIGMENTOSA 4
OMIM	180380.0033	Disease	p.GLU150LYS	RETINITIS PIGMENTOSA 4, AUTOSOMAL RECESSIVE
OMIM	180380.0023	Disease	p.GLU249TER	RETINITIS PIGMENTOSA 4, AUTOSOMAL RECESSIVE
OMIM	180380.0025	Disease	p.GLY106ARG	RETINITIS PIGMENTOSA 4
OMIM	180380.0034	Disease	p.GLY51ARG	RETINITIS PIGMENTOSA 4
OMIM	180380.0036	Disease	p.GLY114ASP	RETINITIS PIGMENTOSA 4
OMIM	180380.0009	Disease	p.GLY89ASP	RETINITIS PIGMENTOSA 4
OMIM	180380.0032	Disease	p.GLY90ASP	NIGHT BLINDNESS, CONGENITAL STATIONARY, AUTOSOMAL DOMINANT 1
OMIM	180380.0021	Disease	p.GLY182SER	RETINITIS PIGMENTOSA 4
OMIM	180380.0010	Disease	p.GLY106TRP	RETINITIS PIGMENTOSA 4
OMIM	180380.0018	Disease	p.HIS211PRO	RETINITIS PIGMENTOSA 4
OMIM	180380.0016	Disease	p.LYS296GLU	RETINITIS PIGMENTOSA 4
OMIM	180380.0007	Disease	p.PHE45LEU	RETINITIS PIGMENTOSA 4
OMIM	180380.0043	Disease	p.PRO23ALA	RETINITIS PIGMENTOSA 4
OMIM	180380.0020	Disease	p.PRO347ARG	RETINITIS PIGMENTOSA 4
OMIM	180380.0024	Disease	p.PRO53ARG	RETINITIS PIGMENTOSA 4
OMIM	180380.0041	Disease	p.PRO347GLN	RETINITIS PIGMENTOSA 4
OMIM	180380.0001	Disease	p.PRO23HIS	RETINITIS PIGMENTOSA 4
OMIM	180380.0022	Disease	p.PRO267LEU	RETINITIS PIGMENTOSA 4
OMIM	180380.0002	Disease	p.PRO347LEU	RETINITIS PIGMENTOSA 4
OMIM	180380.0038	Disease	p.PRO171SER	RETINITIS PIGMENTOSA 4
OMIM	180380.0003	Disease	p.PRO347SER	RETINITIS PIGMENTOSA 4
OMIM	180380.0004	Disease	p.THR58ARG	RETINITIS PIGMENTOSA 4
OMIM	180380.0042	Disease	p.THR94ILE	NIGHT BLINDNESS, CONGENITAL STATIONARY, AUTOSOMAL DOMINANT 1
OMIM	180380.0006	Disease	p.THR17MET	RETINITIS PIGMENTOSA 4
OMIM	180380.0013	Disease	p.TYR178CYS	RETINITIS PIGMENTOSA 4
OMIM	180380.0045	Disease	p.TYR161TER	RETINITIS PIGMENTOSA 4, AUTOSOMAL RECESSIVE
OMIM	180380.0008	Disease	p.VAL87ASP	RETINITIS PIGMENTOSA 4
OMIM	180380.0040	Disease	p.VAL345LEU	RETINITIS PIGMENTOSA 4
OMIM	180380.0044	Disease	p.VAL345MET	RETINITIS PIGMENTOSA 4

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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