IMPDH1 R105W - GET-Evidence

Note: This variant has not been sufficiently evaluated by a GET-Evidence editor.

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Curation:
Currentness:

IMPDH1 R105W

(IMPDH1 Arg105Trp)


Short summary

 

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

Impact

Insufficiently evaluated pathogenic

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

Inheritance pattern

unknown

Summary of published research, and additional commentary

 

Allele frequency

  • None available.

Publications
 

Genomes
 

Other external references
 

    GeneTests
  • GeneTests records for the IMPDH1 gene
    Leber Congenital Amaurosis
    Retinitis Pigmentosa, Autosomal Dominant
    IMPDH1-Related Leber Congenital Amaurosis
    IMPDH1-Related Retinitis Pigmentosa
    www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/IMPDH1
    Web search results (3 hits -- see all)
  • Autosomal dominant retinitis pigmentosa mutations in inosine ...
    Two mutations of IMPDH1 (inosine 5 -monophosphate dehydro ... IMPDH1 is the predominant isoform in the murine. retina, homozygous deletion of IMPDH1 in ...
    www.bio.brandeis.edu/nbio146/readings/MortimerHedstrom05.pdf
  • Autosomal dominant retinitis pigmentosa mutations in inosine ...
    IMPDH1 catalyses the rate-limiting step in guanine nucleotide biosynthesis and ... mutations of IMPDH1 were identified: T116M, G324D, H372P, R105W and N198K (S. ...
    www.ncbi.nlm.nih.gov/pmc/articles/PMC1184561
  • OMIM: 146690
    IMPDH1 is a ubiquitously expressed enzyme, functioning as a homotetramer, which ... in the IMPDH1 gene, resulting in an arg105-to-trp (R105W) substitution. ...
    www.genome.jp/dbget-bin/www_bget?omim+146690

Other in silico analyses
 

  • NBLOSUM100 score = 7
  • GET-Evidence autoscore = 5

Edit history
 

Gene search

"GENE" or "GENE A123C":

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