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Results for the Protein: P03999
129203
611

OPSB_HUMAN RecName: Full=Short-wave-sensitive opsin 1; AltName: Full=Blue cone photoreceptor pigment; AltName: Full=Blue-sensitive opsin; Short=BOP

Known Diseases associated with this Protein:
  TRITAN COLOR BLINDNESS (CBT)
  TRITANOPIA
6
0
3
0
3
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Swiss-Prot Protein: P03999
Identical to: NP_001699
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Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
NO_DOMAIN_FOUND00

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_004838Diseasep.GLY79ARGTritan color blindness (CBT)
Swiss-ProtVAR_004840Diseasep.PRO264SERTritan color blindness (CBT)
Swiss-ProtVAR_004839Diseasep.SER214PROTritan color blindness (CBT)
OMIM613522.0001 Diseasep.GLY79ARGTRITANOPIA
OMIM613522.0003 Diseasep.PRO264SERTRITANOPIA
OMIM613522.0002 Diseasep.SER214PROTRITANOPIA



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