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Results for the Protein: NP_001136076
217272890

palmitoyl-protein thioesterase 1 isoform 2 precursor [Homo sapiens]

Known Diseases associated with this Protein:
  CEROID LIPOFUSCINOSIS, NEURONAL, 1
8
1
8
1
0
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Default View:

Palm_thioest - pfam02089




Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
Palm_thioestpfam020893.2e-11128203

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
dbSNPrs72937434 Polymorphismp.GLN176HISN/A
OMIM600722.0006 Diseasep.ARG48TERCEROID LIPOFUSCINOSIS, NEURONAL, 1
OMIM600722.0001 Diseasep.ARG1TRPCEROID LIPOFUSCINOSIS, NEURONAL, 1
OMIM600722.0003 Diseasep.ASP1GLYCEROID LIPOFUSCINOSIS, NEURONAL, 1
OMIM600722.0010 Diseasep.CYS1TYRCEROID LIPOFUSCINOSIS, NEURONAL, 1
OMIM600722.0009 Diseasep.GLY1ARGCEROID LIPOFUSCINOSIS, NEURONAL, 1
OMIM600722.0004 Diseasep.LEU116GLNCEROID LIPOFUSCINOSIS, NEURONAL, 1
OMIM600722.0005 Diseasep.LEU10TERCEROID LIPOFUSCINOSIS, NEURONAL, 1
OMIM600722.0002 Diseasep.THR1PROCEROID LIPOFUSCINOSIS, NEURONAL, 1



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