ACY1 R393H - GET-Evidence

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ACY1 R393H

(ACY1 Arg393His)

You are viewing an old version of this page that was saved on July 6, 2012 at 6:57pm by Madeleine Ball.

Short summary

Reported to cause aminoacylase 1 deficiency in a recessive manner.

Variant evidence
Computational -
Functional -
Case/Control -
Familial -
Clinical importance
Severity -
Treatability -
Penetrance -


Insufficiently evaluated pathogenic

(The "insufficiently evaluated" qualifier is assigned automatically based on the above evidence and importance scores.)

Inheritance pattern


Summary of published research, and additional commentary


Allele frequency

  • A @ chr3:52023042: 0.4% (47/10758) in EVS
  • Frequency shown in summary reports: 0.4% (47/10758)


Edited in this revision:

Sass JO, Olbrich H, Mohr V, Hart C, Woldseth B, Krywawych S, Bjurulf B, Lakhani PK, Buchdahl RM, Omran H. Neurological findings in aminoacylase 1 deficiency. Neurology. 2007 Jun 12;68(24):2151-3. PubMed PMID: 17562838.

Reported in a single case, believed to be causing deficiency in a compound heterozygous manner. Also believed to be a de novo mutation as the authors report not seeing it in the parents.


Other external references

  • Score: 0.9 (probably damaging)

Other in silico analyses

  • NBLOSUM100 score = 1
  • GET-Evidence autoscore = 4

Edit history

Gene search

"GENE" or "GENE A123C":

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