MRPS9 S13L - 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.

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Curation:
Currentness:

MRPS9 S13L

(MRPS9 Ser13Leu)


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 @ chr2:105654588: 1.4% (155/10758) in EVS
  • T @ chr2:105021019: 0.8% (1/128) in GET-Evidence
  • Frequency shown in summary reports: 1.4% (155/10758)

Publications
 

Genomes
 

hu342A08 - CGI sample GS01175-DNA_B05 from PGP sample 83494370
het T @ chr2:105654588

 

GS19239 - var-GS19239-1100-36-ASM
het T @ chr2:105021020

 

GS19240 - var-GS19240-1100-36-ASM
het T @ chr2:105021020

 

Other external references
 

    dbSNP
  • rs13399067
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    Web search results (5 hits -- see all)
  • MRPS9 Gene - GeneCards | RT09 Protein | RT09 Antibody
    EntrezGene summary for MRPS9: Mammalian mitochondrial ribosomal proteins are encoded by ... MRPS9 Gene in genomic location: bands according to Ensembl, locations ...
    www.genecards.org/cgi-bin/carddisp.pl?gene=MRPS9
  • 1 Methods online supplement Allele Frequency and Genotype ...
    DNA pools, typically of 50 cases or controls, were made by mixing equal volumes of ... rs13399067 MRPS9. 0.019. Chr19:8906821 none. 0.029. rs8082153 NKIRAS2. 0. ...
    atvb.ahajournals.org/cgi/data/.../DC1/1
  • 28S ribosomal protein S9, mitochondrial precursor - Homo ...
    MRPS9. Synonyms: RPMS9. Organism. Homo sapiens (Human) [Complete proteome] Taxonomic ... S L: dbSNP rs13399067. VAR_047902. Hide | Top. SequencesHide. Sequence ...
    www.uniprot.org/uniprot/P82933
  • Mooney Lab - MutDB
    Mooney Lab Home Publications Research Contact Us. Gene ID: MRPS9 ... MutDB MutPred In Silico Functional Profiling PhenoPred S-BLEST CRP Web Services ...
    www.mutdb.org/cgi-bin/mutdb.pl?id=MRPS9&geneid=64965
  • UniProt: P82933
    AC P82933; Q6PG40; DT 23-JAN-2002, integrated into UniProtKB/Swiss-Prot. ... DR CTD; 64965; -. DR GeneCards; GC02P105113; -. DR HGNC; HGNC:14501; MRPS9. ...
    www.genome.jp/dbget-bin/www_bget?uniprot+P82933

Other in silico analyses
 

  • NBLOSUM100 score = 6
  • GET-Evidence autoscore = 2

Edit history
 

Gene search

"GENE" or "GENE A123C":

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