Results for the protein: P04000

Results for the Protein: P04000

129219

5956

OPN1LW

NCBI, UniProt

OPSR_HUMAN RecName: Full=Long-wave-sensitive opsin 1; AltName: Full=Red cone photoreceptor pigment; AltName: Full=Red-sensitive opsin; Short=ROP

Known Diseases associated with this Protein:
BLUE CONE MONOCHROMACY (BCM)
COLORBLINDNESS, PARTIAL, PROTAN SERIES (CBP)

3

10

0

0

13

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Default View: 7tm_1 - pfam00001 7TM_GPCR_Srw - pfam10324	Swiss-Prot Protein: P04000 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
7TM_GPCR_Srw	pfam10324	0.00093	78	340

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_012015	Polymorphism	p.ALA298PRO	N/A
Swiss-Prot	VAR_012013	Polymorphism	p.ALA174VAL	N/A
Swiss-Prot	VAR_009298	Disease	p.CYS203ARG	Blue cone monochromacy (BCM)
Swiss-Prot	VAR_064054	Disease	p.GLY338GLU	Colorblindness, partial, protan series (CBP)
Swiss-Prot	VAR_012014	Polymorphism	p.ILE230THR	N/A
Swiss-Prot	VAR_012010	Polymorphism	p.ILE111VAL	N/A
Swiss-Prot	VAR_050612	Polymorphism	p.ILE274VAL	N/A
Swiss-Prot	VAR_012012	Polymorphism	p.LEU153MET	N/A
Swiss-Prot	VAR_009299	Disease	p.PRO307LEU	Blue cone monochromacy (BCM)
Swiss-Prot	VAR_004842	Polymorphism	p.SER180ALA	N/A
Swiss-Prot	VAR_012011	Polymorphism	p.SER116TYR	N/A
Swiss-Prot	VAR_012009	Polymorphism	p.THR65ILE	N/A
Swiss-Prot	VAR_012016	Polymorphism	p.TYR309PHE	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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