STS S341L - 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:

STS S341L

(STS Ser341Leu)


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
 

    PolyPhen-2
  • Score: 1.0 (probably damaging)
    Web search results (6 hits -- see all)
  • OMIM: 300747
    ... cDNA clones corresponding to the STS gene from human placenta cDNA libraries. ... Rat Sts Genes Several attempts to clone the mouse homolog of the human STS gene ...
    www.genome.jp/dbget-bin/www_bget?omim+300747
  • EC 3.1.6.2 - steryl-sulfatase
    STS converts the major circulating plasma estrogen estrone sulfate into the ... STS converts the major circulating plasma estrogen estrone sulfate into the ...
    www.brenda-enzymes.info/php/result_flat.php4?ecno=3.1.6.2
  • Selected article
    Departments of Pathology and Ophthalmology, Duke University Medical Center, ... STS. W372R. 87. W372P. 88. C446Y. 87. S341L. 87. C341L. 88. H444R. 88. IVS8Ds,GT, +1. 88. Fuchs ...
    bioscience.org/2003/v8/d/1018/fulltext.asp?...&doi=yes
  • [Frontiers in Bioscience 8, d687-713, May 1, 2003]
    Science, global weekly of science ... STS. W372R. 87. W372P. 88. C446Y. 87. S341L. 87. C341L. 88. H444R. 88. IVS8Ds,GT, +1. 88. Fuchs dystrophy. AD. 1p34.3-p32.3 ...
    www.bioscience.org/2003/v8/d/1018/tables.htm
  • Type I- 95%
    ... SWISS-PROT ID Variant site Phosphorylation site SWISS-PROT variant ID Removed ... GALC P54803 Y551S 551 VAR_003403 Src (0.816) GLD, belgian patient PLK4 O00444 ...
    www.nih.go.kr/phosphovariant/html/family_whole/TypeI-_95.txt

Other in silico analyses
 

  • NBLOSUM100 score = 6
  • GET-Evidence autoscore = 5

Edit history
 

Gene search

"GENE" or "GENE A123C":

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