SURF1 G124E - GET-Evidence

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

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Curation:
Currentness:

SURF1 G124E

(SURF1 Gly124Glu)


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 SURF1 gene
    Leigh Syndrome (nuclear DNA mutation)
    Mitochondrial Respiratory Chain Complex IV Deficiency (nuclear g
    www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/SURF1
    PolyPhen-2
  • Score: 0.999 (probably damaging)
    Web search results (8 hits -- see all)
  • Mendelian Inheritance in Man Document Reader
    Sequence analysis of SURF1 in these 3 patients revealed 7 heterozygous mutations, ... transition in the SURF1 gene predicted to cause a gly124-to-glu (G124E) amino acid change. ...
    www.angis.org.au/bin/Databases/BIRX/birx_doc?phtomim+185620
  • Table 1
    SURF1. G385A. G124E. Absolute. N/A. T751C. I246T. High. Predicted β-sheet ... SDHA, succinate dehydrogenase subunit A; SURF1, surfeit locus protein 1; TP, ...
    genomebiology.com/2001/2/6/research/0021/table/T1
  • OMIM 185620 - Surfeit 1
    Le analisi di SURF1 rivelarono numerosi mutazioni, tutti della quale previsti una ... nel gene SURF1 previsti per causare a gly124-to-glu (G124E) scambio di ...
    www.fonama.org/i_omim/mito1/i_185620.html
  • This student paper was written as an assignment in the ...
    SURF1. G385A. G124E. Absolute. N/A. T751C. I246T. High Predicted. β-sheet ... missense and nonsense) of SURF1 have been shown to induce COX deficiency and cause ...
    healthcare.uiowa.edu/CoreFacilities/.../SlaneBen-paper-5.pdf
  • Mitochondrial Respiratory Chain Diseases and Mutations in ...
    SURF1 mRNA is numbered starting with the initiator Met codon either as nt+1 ... tions in SURF1, no child with SCO2 mutations had neu- ropathological ...
    www.emdn-mitonet.co.uk/PDF/schonmtDNA.pdf
  • Survey of human mitochondrial diseases using new genomic ...
    SURF1. G385A. G124E. Absolute. N/A. T751C. I246T. High. Predicted β-sheet ... Domain diagram and partial alignment for surfeit locus protein 1 (SURF1) ...
    biomedcentral.com/content/.../gb-2001-2-6-research0021.xml
  • Survey of human mitochondrial diseases using new genomic ...
    SURF1. G385A. G124E. Absolute. N/A. T751C. I246T. High. Predicted. β-sheet ... Domain diagram and partial alignment for surfeit locus protein 1 (SURF1) ...
    biomedcentral.com/content/pdf/gb-2001-2-6-research0021.pdf
  • OMIM: 185620
    The deduced 300-amino acid protein shares 77% identity with mouse Surf1. ... transition in the SURF1 gene predicted to cause a gly124-to-glu (G124E) amino acid change. ...
    www.genome.jp/dbget-bin/www_bget?omim+185620

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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