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Results for the Protein: P04001
129215

OPSG_HUMAN RecName: Full=Medium-wave-sensitive opsin 1; AltName: Full=Green cone photoreceptor pigment; AltName: Full=Green-sensitive opsin; Short=GOP

Known Diseases associated with this Protein:
  BLUE CONE MONOCHROMACY
  COLORBLINDNESS, DEUTAN
  COLORBLINDNESS, PARTIAL, DEUTAN SERIES (CBD)
  CONE DYSTROPHY 5 (COD5)
  CONE DYSTROPHY 5, X-LINKED
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Swiss-Prot Protein: P04001
Identical to: NP_001041646, NP_000504
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Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
dbSNPrs1065436 Polymorphismp.PHE279VALN/A
Swiss-ProtVAR_064053Diseasep.ARG330GLNColorblindness, partial, deutan series (CBD)
Swiss-ProtVAR_064051Diseasep.ASN94LYSColorblindness, partial, deutan series (CBD)
Swiss-ProtVAR_004841Diseasep.CYS203ARGColorblindness, partial, deutan series (CBD)
dbSNPrs1065436 Polymorphismp.PHE279VALN/A
Swiss-ProtVAR_064052Diseasep.TRP177ARGCone dystrophy 5 (COD5)
OMIM300821.0004 Diseasep.ARG330GLNCOLORBLINDNESS, DEUTAN
OMIM300821.0003 Diseasep.ASN94LYSCOLORBLINDNESS, DEUTAN
OMIM300821.0001 300821.0002 300822.0003 Diseasep.CYS203ARGBLUE CONE MONOCHROMACY
OMIM300821.0006 Diseasep.TRP177ARGCONE DYSTROPHY 5, X-LINKED



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