NEIL3 P117R - GET-Evidence

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

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Curation:
Currentness:

NEIL3 P117R

(NEIL3 Pro117Arg)


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 @ chr4:178256913: 9.9% (1063/10754) in EVS
  • G @ chr4:178493906: 3.9% (5/128) in GET-Evidence
  • Frequency shown in summary reports: 9.9% (1063/10754)

Publications
 

Genomes
 

hu034DB1 - CGI sample GS00253-DNA_A02_200_37
het G @ chr4:178256913

 

 

hu3CAB43 - CGI sample GS01175-DNA_D03 from PGP sample 27486199
het G @ chr4:178256913

 

hu8229AE - CGI sample GS01173-DNA_A07 from PGP sample 96240009
het G @ chr4:178256913

 

hu92C40A - CGI sample GS01175-DNA_G03 from PGP sample 92527586
het G @ chr4:178256913

 

huA0E089 - CGI sample GS01175-DNA_B04 from PGP sample 88590671
het G @ chr4:178256913

 

huB1FD55 - CGI sample GS01173-DNA_B07 from PGP sample 61499538
het G @ chr4:178256913

 

huFFAD87 - CGI sample GS01669-DNA_H05 from PGP sample 10971581
het G @ chr4:178256913

 

GS19703 - var-GS19703-1100-36-ASM
het G @ chr4:178493907

 

GS21767 - var-GS21767-1100-36-ASM
het G @ chr4:178493907

 

Other external references
 

    dbSNP
  • rs7689099
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.998 (probably damaging)
    Web search results (11 hits -- see all)
  • NEIL3 Gene - GeneCards | NEIL3 Protein | NEIL3 Antibody
    EntrezGene summary for NEIL3: NEIL3 belongs to a class of DNA ... NEIL3 Gene in genomic location: bands according to Ensembl, locations according ...
    www.genecards.org/cgi-bin/carddisp.pl?gene=NEIL3
  • Endonuclease VIII-like 3 - Homo sapiens (Human)
    "Expression patterns of Neil3 during embryonic brain development and neoplasia. ... "Human Nei-like protein NEIL3 has AP lyase activity specific for single-stranded ...
    www.uniprot.org/uniprot/Q8TAT5
  • AceView: Gene:NEIL3, a comprehensive annotation of human ...
    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/av.cgi?...&l=FLJ10858
  • Supplementary File 3
    5436 genes (unique) and 6516 proteins (unique) have at least one nsSNP that is both ... NEIL3. NM_018248. rs7689099. Pro. 117. Arg. probably damaging. DELETERIOUS ...
    polydoms.cchmc.org/polydoms/supplementary/...
  • Mooney Lab - MutDB
    Mooney Lab Home Publications Research Contact Us. Gene ID: NEIL3 ... MutDB MutPred In Silico Functional Profiling PhenoPred S-BLEST CRP Web Services ...
    www.mutdb.org/cgi-bin/mutdb.pl?id=NEIL3&geneid=55247
  • Type II- 99%
    ... PROT ID Variant site Phosphorylation site SWISS-PROT variant ID ... NEIL3 Q8TAT5 P117R 116 VAR_020590 MAPK (0.974) Polymorphism (dbSNP:rs7689099) 15489334 ...
    nih.go.kr/phosphovariant/html/family_whole/TypeII-_99.txt
  • .:: repairsnps ::.
    Search results for 'NEIL3': Gene: NEIL3. Name: nei endonuclease VIII ... rs7689099. NP_060718. C>G. P>R. aa-position:117 [ SNP analysis ] 2. rs17064658. NP_060718. G>C. Q> ...
    dna.uio.no/repairSNP/getsnps.php?gene=NEIL3
  • UniProt: Q8TAT5
    ... L.; RT "Expression patterns of Neil3 during embryonic brain development and RT ... RT "Expression and purification of NEIL3, a human DNA glycosylase RT ...
    www.genome.jp/dbget-bin/www_bget?uniprot:Q8TAT5

Other in silico analyses
 

  • NBLOSUM100 score = 5
  • GET-Evidence autoscore = 2

Edit history
 

Gene search

"GENE" or "GENE A123C":

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