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Results for the Protein: NP_064445
539848521

long-wave-sensitive opsin 1 [Homo sapiens]

Known Diseases associated with this Protein:
  BLUE CONE MONOCHROMACY
2
4
2
4
0
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Default View:

7tm_1 - pfam00001


RefSeq Protein: NP_064445
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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 ↕
dbSNPrs149897670 Polymorphismp.ALA174VALN/A
dbSNPrs77453588 Polymorphismp.ILE111VALN/A
dbSNPrs78093925 Polymorphismp.MET236LEUN/A
dbSNPrs949431 Polymorphismp.SER180ALAN/A
OMIM300822.0001 Diseasep.ARG247TERBLUE CONE MONOCHROMACY
OMIM300821.0002 300822.0003 Diseasep.CYS203ARGBLUE CONE MONOCHROMACY



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