BTRC A543S - GET-Evidence

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

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Curation:
Currentness:

BTRC A543S

(BTRC Ala543Ser)


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 @ chr10:103298099: 3.5% (381/10758) in EVS
  • Frequency shown in summary reports: 3.5% (381/10758)

Publications
 

Genomes
 

hu3CAB43 - CGI sample GS01175-DNA_D03 from PGP sample 27486199
het T @ chr10:103298099

 

hu4339C0 - CGI sample GS01175-DNA_H01 from PGP sample 94797469
het T @ chr10:103298099

 

hu8229AE - CGI sample GS01173-DNA_A07 from PGP sample 96240009
het T @ chr10:103298099

 

Other external references
 

    dbSNP
  • rs4151060
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0 (benign)
    Web search results (8 hits -- see all)
  • Human Mutations
    Human Mutations - Btrc. Associated Disease. Nucleotide Position. WT > VAR. Strand. Mutation ... DBSNP:rs4151060. P > H. 556. N. DBSNP:rs2270439. L > L. 351. S. DBSNP: ...
    hedgehog.sfsu.edu/mutations/Btrc.html
  • F-box/WD repeat-containing protein 1A - Homo sapiens (Human)
    SCF(BTRC) mediates the ubiquitination of CTNNB1 and participates in ... of the SCF(BTRC) complex formed of CUL1, SKP1A, RBX1 and a BTRC dimer, in which ...
    www.uniprot.org/uniprot/Q9Y297
  • SNP Gene CHR Chromosomal Position Residue WT > NS Amino Acid ...
    Amino Acid Position. Minor Allele. Cases. MAF. Controls. MAF. Major Allele. SIFT. Poly Phen ... rs4151060. BTRC. 10. 103288089. A/S. 506/542. T. 0.1. 0.04922. G. Tolerated ...
    bloodjournal.hematologylibrary.org/cgi/data/.../DC2/2
  • Part 1
    intron,TagSNP:TNFRSF17(BCMA) rs2303317. 9. G. 0.5657. 0.4524. T. 6.671. 0. ... rs4151060. 10. T. 0.1. 0.04922. G. 5.468. 0.01937. 2.146. 1.117. 4.122. 0.02979. 1006. BTRC. coding ...
    bloodjournal.hematologylibrary.org/cgi/data/.../DC1/2
  • BTRC Gene - GeneCards | FBW1A Protein | FBW1A Antibody
    SCF(BTRC) mediates the ubiquitination of CTNNB1 and participates in ... of the SCF(BTRC) complex formed of CUL1, SKP1A, RBX1 and a BTRC dimer, in which ...
    genecards.org/cgi-bin/carddisp.pl?gene=BTRC&...&snp=240
  • Mooney Lab - MutDB
    rs4151060. Wild type nucleotide: G. Wild type amino acid: A. Variant nucleotide: T. Variant ... Back: Protein Variant: NM_003939 -> Gene: BTRC -> Gene Index: B ...
    mutdb.org/cgi-bin/mutdb.pl?snp=rs4151060&...&rsid=NM_003939
  • UniProt: Q9Y297
    SCF(BTRC) mediates the ubiquitination of CC phosphorylated NFKB1/nuclear factor ... the SCF(BTRC) complex CC formed of CUL1, SKP1, RBX1 and a BTRC dimer. ...
    www.genome.jp/dbget-bin/www_bget?uniprot+Q9Y297

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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