SCO2 S225F - GET-Evidence

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

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SCO2 S225F

(SCO2 Ser225Phe)

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: 0.987 (probably damaging)
    Web search results (10 hits -- see all)
  • WikiGenes - SCO2 - SCO cytochrome oxidase deficient homolog 2...
    The world's first wiki where authorship really matters. Due credit and reputation for authors. Imagine a global collaborative knowledge base for original thoughts.
  • Mitochondrial Respiratory Chain Diseases and Mutations in ...
    tions in SURF1, no child with SCO2 mutations had neu- ropathological findings consistent ... (E140K, L151P, R171W, and S225F) — in. seven unrelated families. ...
  • Type I- 95%
    Gene name SWISS-PROT ID Variant site Phosphorylation site SWISS-PROT variant ID ... CK2 (0.813) neuroblastoma 8047138 CAV3 P56539 S61R 61 VAR_026696 PKC ...
  • Type I- 98
    Gene name SWISS-PROT ID Variant site Phosphorylation site SWISS-PROT variant ID ... position 238 8554050 NUP93 Q8N1F7 S509R 509 VAR_028160 CAMKL (0.700) ...
  • Human recombinant mutated forms of the mitochondrial COX ...
    The human Sco2 protein is a cytochrome c oxidase assembly protein that participates in mitochondrial copper pathway, acting downstream of Cox17 protein.
  • SCO2 - SCO cytochrome oxidase deficient homolog 2 (yeast)
    Sco2 was severely reduced in patient fibroblasts and myoblasts by immunoblot analysis. ... that S225F and E140K mutations found in the SCO2 gene derived ...
  • Mapping the Functional Interaction of Sco1 and Cox2 in ...
    Sco1 and Sco2 localize to the IM and are tethered by a single ... mutations in Sco2 pedigrees map close to either the Cu(I)-binding CX3C motif (E140K) or the His ligand (S225F) ...

Other in silico analyses

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

Edit history

Gene search

"GENE" or "GENE A123C":

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