PON1 Q192R - 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.

Please help improve GET-Evidence by evaluating evidence for this variant!

Curation:
Currentness:

PON1 Q192R

(PON1 Gln192Arg)


Short summary

 

Variant evidence
Computational 3

Variant Effect Predictor (Ensembl ):
SIFT=tolerated(0.64);
PolyPhen=benign(0);
Condel=neutral(0.353)
Mutation Tasting prediction: Polymorphism p value: 0.999997; protein features (might be) affected (HELIX gets lost).
GVGD: GV 56.64; GD 0.00; Class C0
Multi-alignment of P27169.3 serum paraoxonase/arylesterase 1 precursor [Homo sapiens] with: XP_519211.2 [Pan troglodytes] XP_003252563.1 [Nomascus leucogenys] XP_002818288.1 [Pongo abelii] ACW84371.1 [Chlorocebus aethiops] XP_001095992.1 [Macaca mulatta] XP_002751634.1 [Callithrix jacchus] XP_850219.1 [Canis familiaris] XP_001493453.2 [Equus caballus] AAK06400.1 [Oryctolagus cuniculus]

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

  • C @ chr7:94937446: 41.2% (4431/10758) in EVS
  • C @ chr7:94775381: 53.1% (68/128) in GET-Evidence
  • Frequency shown in summary reports: 41.2% (4431/10758)

Publications
 

Uyar OA, Kara M, Erol D, Ardicoglu A, Yuce H. Investigating paraoxonase-1 gene Q192R and L55M polymorphism in patients with renal cell cancer. Genet Mol Res. 2011 Feb 1;10(1):133-9. PubMed PMID: 21308654.

 

Genomes
 

 

 

hu034DB1 - CGI sample GS00253-DNA_A02_200_37
hom C @ chr7:94937446

 

hu04FD18 - CGI sample GS00253-DNA_F01_200_37
het C @ chr7:94937446

 

 

 

 

 

 

 

 

hu604D39 - CGI sample GS00253-DNA_B02_200_37
het C @ chr7:94937446

 

 

 

 

 

hu9385BA - CGI sample GS00253-DNA_E01_200_37
hom C @ chr7:94937446

 

 

 

 

huC30901 - CGI sample GS00253-DNA_B01_200_37
het C @ chr7:94937446

 

 

 

GS06985 - var-GS06985-1100-36-ASM
hom C @ chr7:94775382

 

GS10851 - var-GS10851-1100-36-ASM
het C @ chr7:94775382

 

GS18501 - var-GS18501-1100-36-ASM
hom C @ chr7:94775382

 

GS18502 - var-GS18502-1100-36-ASM
het C @ chr7:94775382

 

GS18504 - var-GS18504-1100-36-ASM
hom C @ chr7:94775382

 

GS18505 - var-GS18505-1100-36-ASM
hom C @ chr7:94775382

 

GS18508 - var-GS18508-1100-36-ASM
hom C @ chr7:94775382

 

GS18517 - var-GS18517-1100-36-ASM
hom C @ chr7:94775382

 

GS18526 - var-GS18526-1100-36-ASM
het C @ chr7:94775382

 

GS18537 - var-GS18537-1100-36-ASM
het C @ chr7:94775382

 

GS18555 - var-GS18555-1100-36-ASM
het C @ chr7:94775382

 

GS18940 - var-GS18940-1100-36-ASM
het C @ chr7:94775382

 

GS18942 - var-GS18942-1100-36-ASM
het C @ chr7:94775382

 

GS18947 - var-GS18947-1100-36-ASM
het C @ chr7:94775382

 

GS18956 - var-GS18956-1100-36-ASM
hom C @ chr7:94775382

 

GS19017 - var-GS19017-1100-36-ASM
hom C @ chr7:94775382

 

GS19020 - var-GS19020-1100-36-ASM
het C @ chr7:94775382

 

GS19025 - var-GS19025-1100-36-ASM
het C @ chr7:94775382

 

GS19026 - var-GS19026-1100-36-ASM
het C @ chr7:94775382

 

GS19129 - var-GS19129-1100-36-ASM
het C @ chr7:94775382

 

GS19238 - var-GS19238-1100-36-ASM
het C @ chr7:94775382

 

GS19648 - var-GS19648-1100-36-ASM
het C @ chr7:94775382

 

GS19649 - var-GS19649-1100-36-ASM
hom C @ chr7:94775382

 

GS19669 - var-GS19669-1100-36-ASM
het C @ chr7:94775382

 

GS19670 - var-GS19670-1100-36-ASM
hom C @ chr7:94775382

 

GS19700 - var-GS19700-1100-36-ASM
het C @ chr7:94775382

 

GS19701 - var-GS19701-1100-36-ASM
het C @ chr7:94775382

 

GS19704 - var-GS19704-1100-36-ASM
hom C @ chr7:94775382

 

GS19735 - var-GS19735-1100-36-ASM
hom C @ chr7:94775382

 

GS19834 - var-GS19834-1100-36-ASM
hom C @ chr7:94775382

 

GS20502 - var-GS20502-1100-36-ASM
hom C @ chr7:94775382

 

GS20509 - var-GS20509-1100-36-ASM
hom C @ chr7:94775382

 

GS21767 - var-GS21767-1100-36-ASM
hom C @ chr7:94775382

 

Other external references
 

    dbSNP
  • rs662
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi

Other in silico analyses
 

  • NBLOSUM100 score = 0
  • GET-Evidence autoscore = 2

Edit history
 

Gene search

"GENE" or "GENE A123C":

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