DHCR7 T289I - GET-Evidence

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

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Curation:
Currentness:

DHCR7 T289I

(DHCR7 Thr289Ile)


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: 0.03 (benign)
    Web search results (13 hits -- see all)
  • DHCR7 genotypes of cousins with Smith-Lemli-Opitz syndrome.
    DHCR7 genotypes of cousins with Smith-Lemli-Opitz syndrome. ... for the common splice site mutation IVS8-1G-->C and the missense mutation T289I. ...
    www.ncbi.nlm.nih.gov/pubmed/11298379
  • Mutation analysis and description of sixteen RSH/Smith-Lemli ...
    Smith-Lemli-Opitz syndrome • RSH syndrome • DHCR7 • mutation analysis ... and six other RSH/SLOS mutations (321GC, L109P, T154M, T289I, Y318N, and L341P) ...
    www3.interscience.wiley.com/journal/73500694/abstract
  • Smith-Lemli-Opitz Syndrome and the DHCR7 Gene
    The human DHCR7 gene is localised on chromosome 11q13 and its structure has been ... one different mutations in the DHCR7 gene have been published to date. ...
    www.slo-deutschland.de/pdf/jira2003.pdf
  • Mutational Spectrum in the D7-Sterol Reductase Gene and ...
    reductase (DHCR7), which catalyzes the final step in. cholesterol ... zygosity for 0 mutations in DHCR7 appears compatible. with life, suggesting that ...
    sciencedirect.com/science?_ob=MImg&...&ie=/sdarticle.pdf
  • Mendelian Inheritance in Man Document Reader
    Nowaczyk et al. (2001) reported the DHCR7 mutations in this family. The brothers' father had the rare thr289-to-ile missense mutation (T289I; 602858.0015) ...
    www.angis.org.au/bin/Databases/BIRX/birx_doc?phtomim+270400
  • OMIM: 270400
    Nowaczyk et al. (2001) reported the DHCR7 mutations in this family. ... cousins had the IVS8-1G-C/T289I genotype. The authors suggested that the observed ...
    www.genome.jp/dbget-bin/www_bget?omim+270400
  • Type I- 95%
    ... (s) for phosphorylation site MYCBPAP Q8TBZ2 S910R 910 VAR_035005 IKK (0.685) Polymorphism (dbSNP:rs1133818) ... (0.664) 11347906 15221638 DHCR7 Q9UBM7 T289I 289 VAR_012725 PIKK (0. ...
    www.nih.go.kr/phosphovariant/html/family_whole/TypeI-_95.txt
  • BiomedExperts: DHCR7 genotypes of cousins with Smith-Lemli ...
    'DHCR7 genotypes of cousins with Smith-Lemli-Opitz syndrome.' on BiomedExperts. Find the right expert or researcher in 1.8 Million pre-calculated research profiles ...
    biomedexperts.com/Abstract.bme/11298379/...
  • Heshka, T (T)
    DHCR7 genotypes of cousins with Smith-Lemli-Opitz syndrome... for the common splice site mutation IVS8-1G-->C and the missense mutation T289I. ...
    lib.bioinfo.pl/auid:2860591
  • Eye findings in 8 children and a spontaneously aborted fetus ...
    Measurement of DHCR7 activity in CV cells was undertaken using ergosterol as a substrate. ... six other RSH/SLOS mutations (321G-->C, L109P, T154M, T289I, Y318N, and L341P) ...
    lib.bioinfo.pl/pmid:9880216

Other in silico analyses
 

  • NBLOSUM100 score = 3
  • GET-Evidence autoscore = 4

Edit history
 

Gene search

"GENE" or "GENE A123C":

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