SCO2 C133Y - 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:

SCO2 C133Y

(SCO2 Cys133Tyr)


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 SCO2 gene
    Leigh Syndrome (nuclear DNA mutation)
    Mitochondrial Respiratory Chain Complex IV Deficiency (nuclear g
    Fatal Infantile Cardioencephalomyopathy due to Cytochrome c Oxid
    www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/SCO2
    PolyPhen-2
  • Score: 1.0 (probably damaging)
    Web search results (4 hits -- see all)
  • Novel SCO2 mutation (G1521A) presenting as a spinal muscular ...
    Novel SCO2 mutation (G1521A) presenting as a spinal muscular atrophy type I phenotype. ... to tyrosine [corrected] (C133Y) [corrected]); mother heterozygous for ...
    www.ncbi.nlm.nih.gov/pubmed/14994243
  • OMIM 604272 - SCO2, omologo al s. cerevisiae; SCO2
    SCO2 รจ critica per regulating the complesso COX, le maggiori site di ... cisteina to tirosina a codone 133 (C133Y) nel legante al rame regione della proteina, la ...
    www.fonama.org/i_omim/mito6/i_604272.html
  • OMIM: 604272
    The deduced human SCO2 protein of 266 amino acids predicts an N-terminal ... Northern blot analysis detected SCO2 expression as a 0.9-kb transcript in all 12 ...
    www.genome.jp/dbget-bin/www_bget?mim:604272

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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