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.

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


SCO2 C133Y

(SCO2 Cys133Tyr)

Short summary


Variant evidence
Computational -
Functional -
Case/Control -
Familial -
Clinical importance
Severity -
Treatability -
Penetrance -


Insufficiently evaluated pathogenic

(The "insufficiently evaluated" qualifier is assigned automatically based on the above evidence and importance scores.)

Inheritance pattern


Summary of published research, and additional commentary


Allele frequency

  • None available.



Other external references

  • 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
  • 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 ...
  • 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 ...
  • 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 ...

Other in silico analyses

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

Edit history

Gene search

"GENE" or "GENE A123C":

Log in