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Results for the Protein: O95237
46576867

LRAT_HUMAN RecName: Full=Lecithin retinol acyltransferase; AltName: Full=Phosphatidylcholine--retinol O-acyltransferase

Known Diseases associated with this Protein:
  LEBER CONGENITAL AMAUROSIS 14 (LCA14)
  RETINAL DYSTROPHY, EARLY-ONSET SEVERE, LRAT-RELATED
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1
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LRAT - pfam04970


Swiss-Prot Protein: O95237
Identical to: NP_004735
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Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
LRATpfam049702.5e-37106181

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
dbSNPrs75368761 Polymorphismp.PHE25TYRN/A
Swiss-ProtVAR_063559Polymorphismp.PRO173LEUN/A
Swiss-ProtVAR_018386Diseasep.SER175ARGLeber congenital amaurosis 14 (LCA14)
OMIM604863.0001 Diseasep.SER175ARGRETINAL DYSTROPHY, EARLY-ONSET SEVERE, LRAT-RELATED



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