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Results for the Protein: Q86VQ0
71658798

LCA5_HUMAN RecName: Full=Lebercilin; AltName: Full=Leber congenital amaurosis 5 protein

Known Diseases associated with this Protein:
  LEBER CONGENITAL AMAUROSIS 5
1
6
1
5
1
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Swiss-Prot Protein: Q86VQ0
Identical to: NP_001116241, NP_859065
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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_038991Polymorphismp.ALA546PRON/A
dbSNPrs35338066 Polymorphismp.ARG66GLNN/A
dbSNPrs34068461 Polymorphismp.ASP26ALAN/A
dbSNPrs1875845 Polymorphismp.GLY656ASPN/A
dbSNPrs75319738 Polymorphismp.ILE527VALN/A
dbSNPrs2655655 Polymorphismp.LEU24SERN/A
OMIM611408.0003 Diseasep.GLN279TERLEBER CONGENITAL AMAUROSIS 5



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