Allele/Variant

Prss8fr

Species
Mus musculus
Symbol
Prss8fr
Category
allele
Allele of gene
Prss8
Transgenic Constructs
None
Synonyms
None
Description
A T-to-A transversion in exon 4 changes a highly conserved non-polar valine at position 170 to a fully charged aspartate residue (p.V170D). Expression levels of the mutant protein are similar to expression levels of the wild-type protein. An enteropeptidase activated recombinant version of this mutant protien displays a low residual enzymatic activity for a fluorogenic peptide substrate.
Additional Information
Literature

Transgenic Constructs

No data available

Genomic Variant Information

No data available

Variant Molecular Consequences

No data available

Phenotypes

Phenotype
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    Disease Associations

    Association
    Disease Qualifier
    Disease
    Annotation details
    Evidence
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