IMPDH1 R105W - GET-Evidence

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

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(IMPDH1 Arg105Trp)

Short summary


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

  • None available.



Other external references

  • GeneTests records for the IMPDH1 gene
    Leber Congenital Amaurosis
    Retinitis Pigmentosa, Autosomal Dominant
    IMPDH1-Related Leber Congenital Amaurosis
    IMPDH1-Related Retinitis Pigmentosa
    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 ...
  • 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. ...
  • 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. ...

Other in silico analyses

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

Edit history

Gene search

"GENE" or "GENE A123C":

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