TRMU A10S - 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:

TRMU A10S

(TRMU Ala10Ser)


Short summary

 

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

Impact

Insufficiently evaluated not reviewed

(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

  • T @ chr22:46731689: 13.5% (1368/10156) in EVS
  • T @ chr22:45110352: 4.6% (5/108) in GET-Evidence
  • Frequency shown in summary reports: 13.5% (1368/10156)

Publications
 

Genomes
 

hu2D6140 - CGI sample GS01173-DNA_F06 from PGP sample 64191565
het T @ chr22:46731689

 

hu34D5B9 - CGI sample GS01173-DNA_C07 from PGP sample 92161424
hom T @ chr22:46731689

 

hu4040B8 - CGI sample GS01175-DNA_D01 from PGP sample 31286272
het T @ chr22:46731689

 

hu4CA5B9 - CGI sample GS01669-DNA_B03 from PGP sample 14427241
het T @ chr22:46731689

 

hu72A81D - CGI sample GS01173-DNA_C02 from PGP sample 10366372
het T @ chr22:46731689

 

huAE4A11 - CGI sample GS01669-DNA_F02 from PGP sample 40767107
het T @ chr22:46731689

 

huD81F3D - CGI sample GS01173-DNA_D06 from PGP sample 69488604
het T @ chr22:46731689

 

huFFAD87 - CGI sample GS01669-DNA_H05 from PGP sample 10971581
het T @ chr22:46731689

 

GS06985 - var-GS06985-1100-36-ASM
het T @ chr22:45110353

 

GS19026 - var-GS19026-1100-36-ASM
het T @ chr22:45110353

 

GS19129 - var-GS19129-1100-36-ASM
het T @ chr22:45110353

 

GS19700 - var-GS19700-1100-36-ASM
het T @ chr22:45110353

 

GS19704 - var-GS19704-1100-36-ASM
het T @ chr22:45110353

 

Other external references
 

    dbSNP
  • rs11090865
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.78 (possibly damaging)
    Web search results (42 hits -- see all)
  • AJHG - Acute Infantile Liver Failure Due to Mutations in the ...
    Mutation in TRMU Related to Transfer RNA Modification Modulates the Phenotypic ... matrilineal relatives carrying both the TRMU A10S and 12S rRNA A1555G mutations ...
    www.cell.com/AJHG/abstract/S0002-9297(09)00347-4
  • Mutation in TRMU related to transfer RNA modification ...
    Mutation in TRMU related to transfer RNA modification modulates the phenotypic expression ... (A10S) in the evolutionarily conserved N-terminal region of the TRMU ...
    www.ncbi.nlm.nih.gov/pubmed/16826519
  • doi:10.1086/506389
    relatives carrying both the TRMU A10S and 12S rRNA A1555G mutations ... S]methionine, with use of cDNA carrying human wild-type and mutant (A10S) TRMU or mTERF ...
    sciencedirect.com/science?_ob=MImg&...&ie=/sdarticle.pdf
  • TRMU related to tRNA modification is a nuclear modifier gene ...
    TRMU related to tRNA modification is a nuclear modifier gene for the phenotypic ... (A10S) in evolutionarily conserved N-terminal region of Trmu protein. ...
    www.ashg.org/genetics/abstracts/abs06/f221.htm
  • Suzuki, T (Tsutomu)
    Genotyping analysis of TRMU in 613 subjects from 1 Arab-Israeli kindred, 210 ... matrilineal relatives carrying both the TRMU A10S and 12S rRNA A1555G mutations ...
    lib.bioinfo.pl/auid:11538
  • Zhao, H (Hui)
    Zhao, H (Hui) :: Murine model of gastrointestinal ischemia associated with complement ... residue (A10S) in the evolutionarily conserved N-terminal region of the TRMU protein. ...
    lib.bioinfo.pl/auid:40797
  • Pathogenic mutations of nuclear genes associated with ...
    We demonstrated that isolated human TRMU cDNA partially restored the respiratory ... matrilineal relatives carrying both the TRMU A10S and 12S rRNA A1555G mutations ...
    abbs.oxfordjournals.org/cgi/content/full/41/3/179
  • 2008 International Conference on Genomics-Applications in ...
    Genomewide association study and follow-up for schizophrenia ... Most strikingly, we showed that the TRMU A10S mutation suppresses the aminoglycoside toxicity associated with ...
    www.genomeconference.org/2008/abstracts/abstracts_16.html
  • ABBS 2009,41(03): Pathogenic mutations of nuclear genes ...
    Here, a failure in tRNA metabolism, caused by the homozygous TRMU A10S mutation, accounted for a .20% decrease in the rate of mitochondrial-protein synthesis [60] ...
    www.abbs.info/counter/show.asp?ID=41030179&flag=1
  • Pathogenic mutations of nuclear genes associated with ...
    TRMU A10S and 12S rRNA A1555G mutations exhibited. prelingual profound deafness. ... caused by the homozygous TRMU. A10S mutation, accounted for a .20 ...
    www.abbs.info/pdf/41-03/01.pdf

Other in silico analyses
 

  • NBLOSUM100 score = –1
  • GET-Evidence autoscore = 2

Edit history
 

Gene search

"GENE" or "GENE A123C":

Log in