TSC1 K585R - GET-Evidence

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

To be considered sufficiently evaluated a variant must have both "variant evidence" and "clinical importance" scores filled in.

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Curation:
Currentness:

TSC1 K585R

(TSC1 Lys585Arg)


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
 

    Web search results (3 hits -- see all)
  • Search unique variants - Tuberous sclerosis database - Leiden ...
    The variants below are all in the TSC1 database, matching your query. ... did not affect TSC1 function; TSC1 levels and S6K T389 phosphorylation as wild-type; ...
    chromium.liacs.nl/LOVD2/TSC/variants.php?select_db=TSC1&...
  • Compositions and methods based upon the tuberous sclerosis-1 ...
    The present invention is directed to a tumor suppressor protein which has been designated hamartin and to the gene, TSC1, which encodes this protein. Mutations in ...
    www.freepatentsonline.com/6326483.html
  • OMIM: 605284
    Overexpression of Tsc1/Tsc2 suppressed axon formation, whereas lack of Tsc1 or Tsc2 ... TSC1 gene was an A-to-G transition of nucleotide 1981, leading to a lys585-to-arg (K585R) ...
    www.genome.jp/dbget-bin/www_bget?omim+605284

Other in silico analyses
 

  • NBLOSUM100 score = –3
  • GET-Evidence autoscore = 5

Edit history
 

Gene search

"GENE" or "GENE A123C":

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