TAT P15S - 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:

TAT P15S

(TAT Pro15Ser)


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

  • A @ chr16:71610276: 17.5% (1879/10758) in EVS
  • A @ chr16:70167776: 14.1% (18/128) in GET-Evidence
  • Frequency shown in summary reports: 17.5% (1879/10758)

Publications
 

Genomes
 

hu0D879F - CGI sample GS00253-DNA_G01_200_37
hom A @ chr16:71610276

 

hu0E64A1 - CGI sample GS01173-DNA_B02 from PGP sample 94378523
het A @ chr16:71610276

 

hu7A4AD1 - CGI sample GS01669-DNA_C05 from PGP sample 42408046
het A @ chr16:71610276

 

hu8229AE - CGI sample GS01173-DNA_A07 from PGP sample 96240009
het A @ chr16:71610276

 

huAE6220 - CGI sample GS00253-DNA_H01_200_37
het A @ chr16:71610276

 

huB1FD55 - CGI sample GS01173-DNA_B07 from PGP sample 61499538
hom A @ chr16:71610276

 

huD37D14 - CGI sample GS01175-DNA_A04 from PGP sample 13272228
het A @ chr16:71610276

 

GS06985 - var-GS06985-1100-36-ASM
het A @ chr16:70167777

 

GS12004 - var-GS12004-1100-36-ASM
het A @ chr16:70167777

 

GS18501 - var-GS18501-1100-36-ASM
het A @ chr16:70167777

 

GS18517 - var-GS18517-1100-36-ASM
het A @ chr16:70167777

 

GS19026 - var-GS19026-1100-36-ASM
het A @ chr16:70167777

 

GS19670 - var-GS19670-1100-36-ASM
het A @ chr16:70167777

 

GS19701 - var-GS19701-1100-36-ASM
het A @ chr16:70167777

 

GS19703 - var-GS19703-1100-36-ASM
het A @ chr16:70167777

 

GS19834 - var-GS19834-1100-36-ASM
het A @ chr16:70167777

 

Other external references
 

    dbSNP
  • rs74344827
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.002 (benign)
    Web search results (66 hits -- see all)
  • Novel and recurrent tyrosine aminotransferase gene mutations ...
    We have now analyzed the TAT genes in a further seven unrelated RHS families ... a protein polymorphism, P15S, and a silent substitution S103S (TCG ...
    cat.inist.fr/?aModele=afficheN&cpsidt=2180352
  • AceView: Gene:TAT, a comprehensive annotation of human, mouse ...
    AceView offers a comprehensive annotation of human, mouse and nematode genes reconstructed by co-alignment and clustering of all publicly available mRNAs and ESTs on ...
    ncbi.nlm.nih.gov/IEB/Research/Acembly/...&a=clones&l=TAT
  • JCI - Issue 95(4)
    Impaired muscle fat metabolism: a cause or effect of visceral obesity? ... cooperate with basic fibroblast growth factor (bFGF) and the HIV-1 Tat protein ...
    www.jci.org/95/4
  • Edema Toxin Impairs Anthracidal Phospholipase A2 Expression ...
    Copyright : © 2007 Raymond et al. This is an open-access article distributed ... permeability increasing protein and p15s in an evolving sterile rabbit peritoneal ...
    www.ncbi.nlm.nih.gov/pmc/articles/PMC2134952
  • Màn hình LCD, VIDEOSEVEN
    Màn hình LCD, VIDEOSEVEN Vatgia.com - Website thương mại điện tử hàng đầu tại Việt Nam, cung cấp hàng trăm nghìn sản phẩm từ hàng nghìn nhà cung cấp khác nhau
    vatgia.com/home/listudv.php?...&iCat=764&p1=178990
  • .:: Bệnh viện Laptop ::.
    Thế Giới Công Nghệ. Tin Tức. Khoa Học. Công Nghệ Sản Phẩm. Tin Học Cơ Bản ... tổng hợp tất cả các dòng driver hiện hành và đây là các dòng sản phẩm của ...
    www.benhvienlaptop.com/?PageID=news&act=detail&cid=88&id=572
  • TropHort: Top > Research > Chapter 8667
    Chapter 8667 provides information on scholary research in the basic and applied life and earth sciences ... Permeability-increasing Protein and p15s in an Evolving Sterile ...
    trophort.com/research/008/666
  • atm.ckb
    tAT>2'ejects'. tAU>2'prints'. tAV>2'OO Design thing'. tAX>2'name'. tAZ>2' ... p15S>3:LX:FF. p160>3:LX:FG. pM1>3:MG:FD. pY4>3:MG:FA. ...
    www.csi.uottawa.ca/~tcl/code4/kbsetc/atm.ckb
  • botany_all_top_4_lev..>
    tAT>2'english length measure'. tAV>2'feet'. tAX>2'miles' ... >3:6:156. p15A>3:6:156. p15C>3:6:156. p15E>3:6:156. p15S>3:6:15Q. ...
    csi.uottawa.ca/~tcl/code4/kbsetc/botany_all_top_4_levels.ckb
  • Máy tính Hồng Hà
    ... tôi đã tổng hợp tất cả các dòng driver hiện hành và đây là các dòng sản phẩm của Toshiba ... P15S. A60. A200-ST. M35X-S. P25S. A65. A205-S. M40S. P30-S. U300-ST. A300-ST ...
    honghacomputer.vn/home/detail.php?module=news&...&iNew=158

Other in silico analyses
 

  • NBLOSUM100 score = 3
  • GET-Evidence autoscore = 2

Edit history
 

Gene search

"GENE" or "GENE A123C":

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