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Results for the Protein: Q03154
461466
95

ACY1_HUMAN RecName: Full=Aminoacylase-1; Short=ACY-1; AltName: Full=N-acyl-L-amino-acid amidohydrolase

Known Diseases associated with this Protein:
  AMINOACYLASE 1 DEFICIENCY
  AMINOACYLASE-1 DEFICIENCY (ACY1D)
11
3
4
1
9
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Default View:

ArgE - COG0624
Peptidase_M20 - pfam01546
M20_dimer - pfam07687


Swiss-Prot Protein: Q03154
Identical to: NP_000657, NP_001185824
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Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
ArgECOG06246.1e-501401
Peptidase_M20pfam015462.6e-5676397
M20_dimerpfam076875e-13188302

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_026105Diseasep.ARG353CYSAminoacylase-1 deficiency (ACY1D)
dbSNPrs2229152 Polymorphismp.ARG386CYSN/A
Swiss-ProtVAR_020452Diseasep.ARG386CYSAminoacylase-1 deficiency (ACY1D)
Swiss-ProtVAR_065562Diseasep.ARG378GLNAminoacylase-1 deficiency (ACY1D)
Swiss-ProtVAR_043114Diseasep.ARG393HISAminoacylase-1 deficiency (ACY1D)
Swiss-ProtVAR_043113Diseasep.ARG197TRPAminoacylase-1 deficiency (ACY1D)
Swiss-ProtVAR_065563Diseasep.ARG378TRPAminoacylase-1 deficiency (ACY1D)
Swiss-ProtVAR_051805Polymorphismp.ASN179SERN/A
Swiss-ProtVAR_026104Diseasep.GLU233ASPAminoacylase-1 deficiency (ACY1D)
Swiss-ProtVAR_036076Polymorphismp.GLU381ASPN/A
OMIM104620.0002 Diseasep.ARG353CYSAMINOACYLASE 1 DEFICIENCY
OMIM104620.0006 Diseasep.ARG393HISAMINOACYLASE 1 DEFICIENCY
OMIM104620.0005 Diseasep.ARG197TRPAMINOACYLASE 1 DEFICIENCY
OMIM104620.0003 Diseasep.GLU233ASPAMINOACYLASE 1 DEFICIENCY



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