Results for the protein: Q03154

Results for the Protein: Q03154

461466

95

ACY1

NCBI, UniProt

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 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
Peptidase_M20	pfam01546	2.6e-56	76	397
M20_dimer	pfam07687	5e-13	188	302

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_026105	Disease	p.ARG353CYS	Aminoacylase-1 deficiency (ACY1D)
dbSNP	rs2229152	Polymorphism	p.ARG386CYS	N/A
Swiss-Prot	VAR_020452	Disease	p.ARG386CYS	Aminoacylase-1 deficiency (ACY1D)
Swiss-Prot	VAR_065562	Disease	p.ARG378GLN	Aminoacylase-1 deficiency (ACY1D)
Swiss-Prot	VAR_043114	Disease	p.ARG393HIS	Aminoacylase-1 deficiency (ACY1D)
Swiss-Prot	VAR_043113	Disease	p.ARG197TRP	Aminoacylase-1 deficiency (ACY1D)
Swiss-Prot	VAR_065563	Disease	p.ARG378TRP	Aminoacylase-1 deficiency (ACY1D)
Swiss-Prot	VAR_051805	Polymorphism	p.ASN179SER	N/A
Swiss-Prot	VAR_026104	Disease	p.GLU233ASP	Aminoacylase-1 deficiency (ACY1D)
Swiss-Prot	VAR_036076	Polymorphism	p.GLU381ASP	N/A
OMIM	104620.0002	Disease	p.ARG353CYS	AMINOACYLASE 1 DEFICIENCY
OMIM	104620.0006	Disease	p.ARG393HIS	AMINOACYLASE 1 DEFICIENCY
OMIM	104620.0005	Disease	p.ARG197TRP	AMINOACYLASE 1 DEFICIENCY
OMIM	104620.0003	Disease	p.GLU233ASP	AMINOACYLASE 1 DEFICIENCY

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