SCO2 S225F - GET-Evidence

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

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Curation:
Currentness:

SCO2 S225F

(SCO2 Ser225Phe)


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: 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.
    www.wikigenes.org/e/gene/e/9997.html
  • 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. ...
    www.emdn-mitonet.co.uk/PDF/schonmtDNA.pdf
  • 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 ...
    www.nih.go.kr/phosphovariant/html/family_whole/TypeI-_95.txt
  • 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) ...
    www.nih.go.kr/phosphovariant/html/family_whole/TypeI-_98.txt
  • 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.
    www.medscape.com/medline/abstract/14972329?prt=true
  • 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 ...
    www.ihop-net.org/UniPub/iHOP/gismo/95147.html
  • 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) ...
    www.ncbi.nlm.nih.gov/pmc/articles/PMC2397465

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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