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Results for the Protein: P50897
1709747

PPT1_HUMAN RecName: Full=Palmitoyl-protein thioesterase 1; Short=PPT-1; AltName: Full=Palmitoyl-protein hydrolase 1; Flags: Precursor

Known Diseases associated with this Protein:
  CEROID LIPOFUSCINOSIS, NEURONAL, 1
  CEROID LIPOFUSCINOSIS, NEURONAL, 1 (CLN1)
31
2
8
2
23
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Palm_thioest - pfam02089


Swiss-Prot Protein: P50897
Identical to: NP_000301
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Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
Palm_thioestpfam020894.3e-25128306

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_005553Diseasep.ARG122TRPCeroid lipofuscinosis, neuronal, 1 (CLN1)
Swiss-ProtVAR_005551Diseasep.ASP79GLYCeroid lipofuscinosis, neuronal, 1 (CLN1)
Swiss-ProtVAR_066876Diseasep.CYS152TYRCeroid lipofuscinosis, neuronal, 1 (CLN1)
Swiss-ProtVAR_066874Diseasep.CYS45TYRCeroid lipofuscinosis, neuronal, 1 (CLN1)
Swiss-ProtVAR_005555Diseasep.GLN177GLUCeroid lipofuscinosis, neuronal, 1 (CLN1)
dbSNPrs72937434 Polymorphismp.GLN279HISN/A
Swiss-ProtVAR_018511Diseasep.GLY108ARGCeroid lipofuscinosis, neuronal, 1 (CLN1)
Swiss-ProtVAR_005549Diseasep.GLY42GLUCeroid lipofuscinosis, neuronal, 1 (CLN1)
Swiss-ProtVAR_005560Diseasep.GLY250VALCeroid lipofuscinosis, neuronal, 1 (CLN1)
Swiss-ProtVAR_066877Diseasep.HIS187ARGCeroid lipofuscinosis, neuronal, 1 (CLN1)
Swiss-ProtVAR_005548Diseasep.HIS39GLNCeroid lipofuscinosis, neuronal, 1 (CLN1)
dbSNPrs1800205 Polymorphismp.ILE134THRN/A
Swiss-ProtVAR_005558Diseasep.LEU219GLNCeroid lipofuscinosis, neuronal, 1 (CLN1)
Swiss-ProtVAR_066879Diseasep.LEU222PROCeroid lipofuscinosis, neuronal, 1 (CLN1)
Swiss-ProtVAR_066882Diseasep.LEU305PROCeroid lipofuscinosis, neuronal, 1 (CLN1)
Swiss-ProtVAR_066878Diseasep.PRO189ARGCeroid lipofuscinosis, neuronal, 1 (CLN1)
Swiss-ProtVAR_066875Diseasep.SER138LEUCeroid lipofuscinosis, neuronal, 1 (CLN1)
Swiss-ProtVAR_005550Diseasep.THR75PROCeroid lipofuscinosis, neuronal, 1 (CLN1)
Swiss-ProtVAR_066881Diseasep.TRP296ARGCeroid lipofuscinosis, neuronal, 1 (CLN1)
Swiss-ProtVAR_058434Diseasep.TRP38CYSCeroid lipofuscinosis, neuronal, 1 (CLN1)
Swiss-ProtVAR_005552Diseasep.TYR109ASPCeroid lipofuscinosis, neuronal, 1 (CLN1)
Swiss-ProtVAR_005559Diseasep.TYR247HISCeroid lipofuscinosis, neuronal, 1 (CLN1)
Swiss-ProtVAR_066880Diseasep.VAL228GLYCeroid lipofuscinosis, neuronal, 1 (CLN1)
Swiss-ProtVAR_005556Diseasep.VAL181LEUCeroid lipofuscinosis, neuronal, 1 (CLN1)
Swiss-ProtVAR_005557Diseasep.VAL181METCeroid lipofuscinosis, neuronal, 1 (CLN1)
OMIM600722.0006 Diseasep.ARG151TERCEROID LIPOFUSCINOSIS, NEURONAL, 1
OMIM600722.0001 Diseasep.ARG122TRPCEROID LIPOFUSCINOSIS, NEURONAL, 1
OMIM600722.0003 Diseasep.ASP79GLYCEROID LIPOFUSCINOSIS, NEURONAL, 1
OMIM600722.0010 Diseasep.CYS45TYRCEROID LIPOFUSCINOSIS, NEURONAL, 1
OMIM600722.0009 Diseasep.GLY108ARGCEROID LIPOFUSCINOSIS, NEURONAL, 1
OMIM600722.0004 Diseasep.LEU219GLNCEROID LIPOFUSCINOSIS, NEURONAL, 1
OMIM600722.0005 Diseasep.LEU10TERCEROID LIPOFUSCINOSIS, NEURONAL, 1
OMIM600722.0002 Diseasep.THR75PROCEROID LIPOFUSCINOSIS, NEURONAL, 1



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