REV3L S1220L - GET-Evidence

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

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Curation:
Currentness:

REV3L S1220L

(REV3L Ser1220Leu)


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 @ chr6:111695899: 3.2% (348/10756) in EVS
  • A @ chr6:111802591: 1.6% (2/128) in GET-Evidence
  • Frequency shown in summary reports: 3.2% (348/10756)

Publications
 

Genomes
 

GS19026 - var-GS19026-1100-36-ASM
het A @ chr6:111802592

 

Other external references
 

    dbSNP
  • rs3218600
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.201 (possibly damaging)
    Web search results (17 hits -- see all)
  • Functional nonsynonymous single nucleotide polymorphisms from ...
    Table 3. nsSNPs altering short putative protein motifs and phosphorylation sites ... REV3L. rs3218600. NP_002903.1. 1. S1142L. S. L residue removes S1142 in EKGTSRKHI. REV3L ...
    physiolgenomics.physiology.org/cgi/content/full/29/2/109/T3
  • DNA polymerase zeta catalytic subunit - Homo sapiens (Human)
    REV3L. Synonyms: POLZ, REV3. Organism. Homo sapiens (Human) [Complete ... splicing, genomic structure, and fine chromosome localization of REV3L. ...
    www.uniprot.org/uniprot/O60673
  • Sevtap Savas, Ian W. Taylor, Jeff L. Wrana and Hilmi Ozcelik
    REV3L-R1892H, and SNX1-D466N are predicted to alter two. motifs and ... REV3L. rs3218600. NP_002903.1. 1. S1142L. S. L residue removes S1142. in EKGTSRKHI. REV3L ...
    physiolgenomics.physiology.org/cgi/reprint/29/2/109.pdf
  • .:: repairsnps ::.
    Search results for 'REV3L': Gene: REV3L. Name: REV3-like, catalytic subunit of DNA ... rs3218600. NP_002903. C>T. S>L. aa-position:1142 [ SNP analysis ] 12 ...
    dna.uio.no/repairSNP/getsnps.php?gene=REV3L
  • .:: repairsnps ::.
    Results for non-synonymous SNP at position 1142 in REV3L (NP_002903) ... rs3218600. RefSeq ID. NP_002903 [ View FASTA sequence ] Reference allele. C. Non-synonymous ...
    dna.uio.no/repairSNP/snp_details.php?rsid=rs3218600&...
  • HMDB01532.txt
    ... Metabolic_Enzyme_1_Gene_Name: REV3L # Metabolic_Enzyme_1_Protein_Sequence: >DNA ... Metabolic_Enzyme_1_SNPs: rs462779; rs3218599; rs3218600; rs3218595; rs458017; rs3204953; ...
    wishart.biology.ualberta.ca/polysearch/.../HMDB01532.txt
  • HMDB01342.txt
    ... TTP; thymidine triphosphate; thymidine 5'-triphosphate; dTTP; Thymidine ... Deoxy-TTP; Deoxythymidine 5'-triphosphate; Deoxythymidine triphosphate; TTP ...
    wishart.biology.ualberta.ca/polysearch/.../HMDB01342.txt
  • HMDB01532.txt
    ... 5'-DATP; Deoxyadenosine 5'-triphosphate; Deoxyadenosine triphosphate; dATP ... phosphoryl]oxy-hydroxy-phosphoryl]oxyphosphonic acid # Chemical_Formula: ...
    wks16338.biology.ualberta.ca/~dean/polyomx/.../HMDB01532.txt
  • HMDB01440.txt
    ... Deoxyguanosine 5'-triphosphate; 2'-Deoxyguanosine triphosphate; 5'-DGTP; Deoxy ... oxyphosphonic acid # Chemical_Formula: C10H16N5O13P3 # Chemical_Structure: ...
    wks16338.biology.ualberta.ca/~dean/polyomx/.../HMDB01440.txt
  • UniProt: O60673
    ... like; DE Short=hREV3; GN Name=REV3L; Synonyms=POLZ, REV3; OS Homo sapiens (Human) ... splicing, genomic structure, and fine chromosome RT localization of REV3L."; RL Cytogenet. ...
    www.genome.jp/dbget-bin/www_bget?uniprot:O60673

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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