STS H444R - 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.

Please help improve GET-Evidence by evaluating evidence for this variant!

Curation:
Currentness:

STS H444R

(STS His444Arg)


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 (10 hits -- see all)
  • Both N-terminal and C-terminal regions of steroid sulfatase ...
    The activity of truncated STS lacking the N-terminal regions declined, and the ... in the STS gene, and variations in amino acids Q560P and H444R were found in ...
    joe.endocrinology-journals.org/cgi/content/full/188/2/365
  • Both N-terminal and C-terminal regions of steroid sulfatase ...
    activity of truncated STS lacking the N-terminal regions. declined, ... H444R were found in those cases (Sugawara et al. 2000). The ļ¬nding of impairment of STS ...
    joe.endocrinology-journals.org/cgi/reprint/188/2/365.pdf
  • OMIM: 300747
    ... Rat Sts Genes Several attempts to clone the mouse homolog of the human STS gene failed, ... G transition in the STS gene, resulting in a his444-to-arg (H444R) substitution. ...
    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 II- 95%
    ... CMTX1, moderate 11437164 HSD11B2 P80365 R186C 184 VAR_015637 PKC (0.550) AME 7593417 9661590 PKLR P30613 ... (0.536) HYP, sporadic 10439971 STS P08842 W372S 364 VAR_014020 PDGFR ...
    nih.go.kr/phosphovariant/html/family_whole/TypeII-_95.txt
  • Serum levels of steroid sulfatase protein in gynecologic ...
    The activity of truncated STS lacking the N-terminal regions declined, and the ... in the STS gene and variation in amino acids H444R and E560P were ...
    lib.bioinfo.pl/pmid:8070131
  • Cloning and expression of steroid sulfatase cDNA and the ...
    BioInfoBank Library :: Cloning and expression of steroid sulfatase cDNA and the frequent occurrence of deletions in STS deficiency: implications for X-Y interchange. ...
    lib.bioinfo.pl/pmid:3032454

Other in silico analyses
 

  • NBLOSUM100 score = 1
  • GET-Evidence autoscore = 5

Edit history
 

Gene search

"GENE" or "GENE A123C":

Log in