SURF1 Y274D - 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!

Curation:
Currentness:

SURF1 Y274D

(SURF1 Tyr274Asp)


You are viewing the latest version of this page, saved on January 5, 2010 at 10:42pm by OMIM Importing Robot.

Edited in this revision:

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: 1.0 (probably damaging)
    Web search results (4 hits -- see all)
  • Two novel mutations of SURF1 in Leigh syndrome with ...
    Two novel mutations of SURF1 in Leigh syndrome with cytochrome c oxidase deficiency. ... in the substitution of tyrosine by aspartic acid at codon 274 (Y274D) ...
    www.ncbi.nlm.nih.gov/pubmed/10647889
  • 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
  • PubMed: 10647889
    We identified two novel mutations of SURF1 in a Japanese LS patient with COX ... the parents' genes, and found that the Y274D mutation was in his father and the ...
    www.genome.jp/dbget-bin/www_bget?pubmed+10647889
  • Two novel mutations of SURF1 in Leigh syndrome with ...
    We identified two novel mutations of SURF1 in a Japanese LS patient with COX deficiency ... genes, and found that the Y274D mutation was in his father and ...
    www.medscape.com/medline/abstract/10647889?prt=true

Other in silico analyses
 

  • NBLOSUM100 score = 7
  • GET-Evidence autoscore = 5

Edit history
 

Gene search

"GENE" or "GENE A123C":

Log in