NDUFV1 T423M - GET-Evidence

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

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Curation:
Currentness:

NDUFV1 T423M

(NDUFV1 Thr423Met)


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
 

    GeneTests
  • GeneTests records for the NDUFV1 gene
    Leigh Syndrome (nuclear DNA mutation)
    Mitochondrial Respiratory Chain Complex I Deficiency (nuclear ge
    www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/NDUFV1
    PolyPhen-2
  • Score: 0.871 (probably damaging)
    Web search results (30 hits -- see all)
  • Mitochondrial complex I mutations in Caenorhabditis elegans ...
    Missense mutations in the human NDUFV1 gene, which encodes the 51 kDa active ... mutations exactly mimic the disease-causing NDUFV1 A341V and T423M mutations. ...
    hmg.oxfordjournals.org/cgi/content/full/13/3/303
  • PROTEIN BIOSYNTHESIS '99 Human Mitochondrial Complex I in ...
    NDUFV1 and 2, NDUFS1–3, and NDUFS7 and 8, would be predicted to carry out essential ... NDUFV1 (R59X, T423M) M/7. Vomiting, strabismus, hypotonia Progressive, myoclonic. epilepsy ...
    sciencedirect.com/science?_ob=MImg&...&ie=/sdarticle.pdf
  • Inherited complex I deficiency is associated with faster ...
    ... and the other with a R59X/T423M mutation in the NDUFV1 subunit. ... moderately reduced CI activity in NDUFV1 cells was associated with an increase in F and normal Nc, suggesting ...
    ajpcell.physiology.org/cgi/content/full/294/5/C1124
  • Isolated complex I deficiency in children: Clinical ...
    and T423M in two brothers (19 and 20) suffering. from a progressive unspecified ... subunit and R59X and T423M in. NDUFV1 subunit), the brothers expressed ...
    hitech-projects.com/euprojects/.../documents/Marisa1.pdf
  • Mutational analysis of Mitochondrial Complex 1
    NDUFV1. L53P. This is the first residue in an α- helix, the sidechain of leucine makes ... T423M. The threonine forms a hydrogen bond at the end of a α- helix for local stability, ...
    www.cmbi.ru.nl/~hvensela/mutantsCompl1/Comple_3.html
  • OMIM 252010 - Complesso I mitocondriale, carenza
    ... di mutazioni nei geni codificati dal nucleo, includendo NDUFV1 ... mutazioni nel gene NDUFV1: una doppia mutazione (R59X, T423M; vedere 161015.0001) e una singola sostituzione ...
    www.fonama.org/i_omim/mito2/i_252010.html
  • Werner J.H. Koopman
    two FP subunits (encoded by the NDUFV1 and NDUFV2 genes in humans), five IP ... in the NDUFV1 (R59X/T423M; 26), NDUFS1 (R557X/D618N; Manuscript in ...
    ajpcell.physiology.org/cgi/reprint/00104.2005v1.pdf
  • Mitochondrial Respiratory Chain Diseases and Mutations in ...
    NDUFV1. C175T. R59X. Leukodystrophy/myoclonic epilepsy. 37. C1022T. T423M ... (U65579.1; nt+1 @ initiator Met); NDUFV1 (AF053070.1; nt+1 @ initiator Met); SCO2 ...
    www.emdn-mitonet.co.uk/PDF/schonmtDNA.pdf
  • NDUFS4
    genes: A341V, R59X and T423M in the NDUFVI gene (22); V122M in the NDUFS7 gene (23); P79L and R102H in the ... were found in the coding sequence for the NDUFV1 gene in all ...
    hmg.oxfordjournals.org/cgi/reprint/10/5/529.pdf
  • Neurospora Strains Harboring Mitochondrial Disease-Associated ...
    ... mutation and a compound heterozygous T423M and R59X mutation) (SCHUELKE et al. ... point mutations of the nuclear NDUFV1 and NDUFS1 genes in mitochondrial complex I deficiency. ...
    www.genetics.org/cgi/content/full/171/1/91

Other in silico analyses
 

  • NBLOSUM100 score = 2
  • GET-Evidence autoscore = 5

Edit history
 

Gene search

"GENE" or "GENE A123C":

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