TMPO Q599E - GET-Evidence

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

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Curation:
Currentness:

TMPO Q599E

(TMPO Gln599Glu)


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

  • G @ chr12:98927830: 7.1% (760/10758) in EVS
  • G @ chr12:97451960: 3.1% (4/128) in GET-Evidence
  • Frequency shown in summary reports: 7.1% (760/10758)

Publications
 

Genomes
 

hu025CEA - CGI sample GS01669-DNA_D02 from PGP sample 27316983
het G @ chr12:98927830

 

hu0E64A1 - CGI sample GS01173-DNA_B02 from PGP sample 94378523
het G @ chr12:98927830

 

hu2D6140 - CGI sample GS01173-DNA_F06 from PGP sample 64191565
het G @ chr12:98927830

 

 

huAE4A11 - CGI sample GS01669-DNA_F02 from PGP sample 40767107
het G @ chr12:98927830

 

huD37D14 - CGI sample GS01175-DNA_A04 from PGP sample 13272228
het G @ chr12:98927830

 

GS10851 - var-GS10851-1100-36-ASM
het G @ chr12:97451961

 

Other external references
 

    dbSNP
  • rs17459334
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.878 (probably damaging)
    Web search results (9 hits -- see all)
  • TMPO Gene - GeneCards | LAP2A Protein | LAP2A Antibody
    TMPO Gene in genomic location: bands according to Ensembl, locations according ... and Antibodies for TMPO. R&D Systems Antibodies for TMPO (Thymopoietin) ...
    www.genecards.org/cgi-bin/carddisp.pl?gene=TMPO
  • Lamina-associated polypeptide 2, isoform alpha - Homo sapiens ...
    Q E: dbSNP rs17459334. Ref.2. VAR_005635. Natural variant. 690. 1. R C: ... the human thymopoietin (TMPO) gene and relationship of human TMPO beta to rat ...
    www.uniprot.org/uniprot/P42166
  • Supplementary Table xls.1
    Administrator B**a***=***£***h*J*\I08*X*@*ì*"*******1* É*ÿ**Arial1* É*ÿ**Arial1 ... rs17459334*TMPO NM_003276 NP_003267*Q599E. thymopoietin. rs17462252 ...
    icr.ac.uk/research/research_sections/.../2843.xls
  • Type II- 95%
    ... SWISS-PROT ID Variant site Phosphorylation site SWISS-PROT variant ID Removed ... P80365 R186C 184 VAR_015637 PKC (0.550) AME 7593417 9661590 PKLR P30613 D390N ...
    nih.go.kr/phosphovariant/html/family_whole/TypeII-_95.txt
  • Type II- 98%
    ... PROT ID Variant site Phosphorylation site SWISS-PROT variant ID ... rs9938550) 11067870 TMPO P42166 Q599E 598 VAR_005635 PIKK (0.928) Polymorphism (dbSNP:rs17459334) 8530026 F9 ...
    nih.go.kr/phosphovariant/html/family_whole/TypeII-_98.txt
  • UniProt: P42166
    ... mapping of the human thymopoietin (TMPO) gene and RT relationship of human TMPO beta to rat lamin-associated polypeptide RT 2."; RL Genomics 28:198 ...
    www.genome.jp/dbget-bin/www_bget?uniprot+P42166

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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