NDUFS3 R199W - GET-Evidence

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

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Curation:
Currentness:

NDUFS3 R199W

(NDUFS3 Arg199Trp)


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)
  • MitoSciences
    (NDUFS3, SURF1) or antibodies representative of the mutated complex, i.e. Core 2 for ... T145I/R199W of NDUFS3 gene (patient 2) resulted in a clear reduction in NDUFS3 protein ...
    www.mitosciences.com/PDF/Bastin_2008.pdf
  • Activation of Peroxisome Proliferator-Activated Receptor ...
    Treatment by bezafibrate increased NDUFS3 protein levels in control ... T145I/R199W of NDUFS3 gene (patient 2) resulted in a clear reduction in NDUFS3 protein ...
    jcem.endojournals.org/cgi/content/full/93/4/1433
  • Mutant NDUFS3 subunit of mitochondrial complex I causes Leigh ...
    was used to study the NDUFS3 gene in a series of complex I ... the R199W mutations, a result which is consistent with the. observation of a complex I ...
    www.u676.org/Documents/Benit-JMedGenet-04.pdf
  • OMIM
    La prevista 264-aminoacidi umano NDUFS3 proteina condividevano 90% identità con ... e caspasi-indipendenti cellule morte pathways by cleaving NDUFS3 dopo lys56. ...
    www.fonama.org/i_omim/6/i_603846.htm
  • Molecular diagnostics of mitochondrial disorders
    Received 7 June 2004; received in revised form 20 July 2004; accepted 26 July 2004 ... NDUFS3. 1/45. T145I/R199W. NDUFS4. 2/67. IVS1nt-1. exons 3–5 deletion. NDUFS7. 1/66. R145H. NDUFS2 ...
    sci.ccny.cuny.edu/~gunner/.../bba04Rotig.diagnosis.pdf
  • Mitochondrial Complex I Deficiency in Humans
    T145I/R199W. Homologous 5bp duplication. IVS1nt-1/IVS1nt-1. V122M/V122M ... A., Munnich, A., Rustin P. Mutant NDUFS3 subunit of. mitochondrial Complex I causes Leigh ...
    www.u676.org/Documents/Benit-CurrGenomics-04.pdf

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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