• Mutation; HGNC; HGNC:318; AGA; Simple; p.Arg161Gln (c.482G>A); ClinVar=VCV000809707; Zygosity=Heterozygous (PubMed=1904874).
  
• Mutation; HGNC; HGNC:318; AGA; Simple; p.Cys163Ser (c.488G>C); ClinVar=VCV000000219; Zygosity=Homozygous (PubMed=1904874).
  

DOI=10.5962/bhl.title.4090
Lewis Lemon Coriell, Arthur E. Greene;
The human genetic mutant cell repository: list of genetic variants, chromosomal aberrations and normal cell cultures submitted to the repository. 4th edition. October 1977.
(In misc. document) Institute for Medical Research (Camden, N.J.); pp.1-171; National Institutes of Health; Bethesda; USA (1977)

PubMed=1904874; DOI=10.1016/S0021-9258(18)99071-X
Krishna J. Fisher, Nathan Ned Aronson Jr.;
Characterization of the mutation responsible for aspartylglucosaminuria in three Finnish patients. Amino acid substitution Cys163->Ser abolishes the activity of lysosomal glycosylasparaginase and its conversion into subunits.
J. Biol. Chem. 266:12105-12113(1991)

CLPUB00447
Richard A. Mulivor, Sharon F. Suchy;
1992/1993 catalog of cell lines. NIGMS human genetic mutant cell repository. 16th edition. October 1992.
(In misc. document) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda; USA (1992)