PARK2 V380L - 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:

PARK2 V380L

(PARK2 Val380Leu)


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 @ chr6:161807855: 17.8% (1916/10758) in EVS
  • G @ chr6:161727844: 14.8% (19/128) in GET-Evidence
  • Frequency shown in summary reports: 17.8% (1916/10758)

Publications
 

Genomes
 

hu025CEA - CGI sample GS01669-DNA_D02 from PGP sample 27316983
het G @ chr6:161807855

 

hu0E64A1 - CGI sample GS01173-DNA_B02 from PGP sample 94378523
het G @ chr6:161807855

 

hu2D6140 - CGI sample GS01173-DNA_F06 from PGP sample 64191565
het G @ chr6:161807855

 

hu3CAB43 - CGI sample GS01175-DNA_D03 from PGP sample 27486199
het G @ chr6:161807855

 

hu4339C0 - CGI sample GS01175-DNA_H01 from PGP sample 94797469
het G @ chr6:161807855

 

hu43860C - CGI sample GS00253-DNA_A01_200_37
het G @ chr6:161807855

 

hu44DCFF - CGI sample GS01669-DNA_C07 from PGP sample 74521372
het G @ chr6:161807855

 

hu72A81D - CGI sample GS01173-DNA_C02 from PGP sample 10366372
het G @ chr6:161807855

 

hu92C40A - CGI sample GS01175-DNA_G03 from PGP sample 92527586
het G @ chr6:161807855

 

 

huAE6220 - CGI sample GS00253-DNA_H01_200_37
het G @ chr6:161807855

 

huD81F3D - CGI sample GS01173-DNA_D06 from PGP sample 69488604
het G @ chr6:161807855

 

GS07357 - var-GS07357-1100-36-ASM
het G @ chr6:161727845

 

GS10851 - var-GS10851-1100-36-ASM
het G @ chr6:161727845

 

GS18502 - var-GS18502-1100-36-ASM
het G @ chr6:161727845

 

GS18508 - var-GS18508-1100-36-ASM
het G @ chr6:161727845

 

GS19020 - var-GS19020-1100-36-ASM
het G @ chr6:161727845

 

GS19238 - var-GS19238-1100-36-ASM
het G @ chr6:161727845

 

GS19240 - var-GS19240-1100-36-ASM
het G @ chr6:161727845

 

GS19649 - var-GS19649-1100-36-ASM
het G @ chr6:161727845

 

GS19669 - var-GS19669-1100-36-ASM
hom G @ chr6:161727845

 

GS19700 - var-GS19700-1100-36-ASM
het G @ chr6:161727845

 

GS19701 - var-GS19701-1100-36-ASM
het G @ chr6:161727845

 

GS20509 - var-GS20509-1100-36-ASM
het G @ chr6:161727845

 

GS21767 - var-GS21767-1100-36-ASM
het G @ chr6:161727845

 

Other external references
 

    dbSNP
  • rs1801582
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0 (benign)
    Web search results (40 hits -- see all)
  • Parkinson Disease Knowledgebase
    ... these duplications do not necessarily interrupt the open reading frame of PARK2 ... that in control samples, only PARK2 duplications and not deletions have been ...
    datam.i2r.a-star.edu.sg/mdpd/detail.php?symbol=PARK2&...
  • PDGene
    PDGene, a database that aims to provide an unbiased, centralized, publicly available and regularly updated collection of genetic association studies performed on PD ...
    www.pdgene.org/funnel.asp?geneID=16&polyID=88
  • MDPD: an integrated genetic information resource for ...
    For example, the V380L. substitution in PARK2 gene is marked Associated' since. it has been ... able inference about the importance of PARK2 instantly. To further confirm his/her ...
    nar.oxfordjournals.org/cgi/reprint/37/suppl_1/D858.pdf
  • MDPD: an integrated genetic information resource for ...
    PARK2, LRRK2, PINK1, SNCA, UCHL1 and PARK7 are the most frequently ... For example, the V380L substitution in PARK2 gene is marked Associated' since it ...
    nar.oxfordjournals.org/cgi/content/full/gkn770v1
  • PLoS ONE: Analysis of Nigerians with Apparently Sporadic ...
    PLoS ONE: an inclusive, peer-reviewed, open-access resource from the PUBLIC LIBRARY OF ... With the exception of the V380L and S167N polymorphisms, no other missense homozygous ...
    plosone.org/article/info:doi/10.1371/journal.pone.0003421
  • Analysis of Nigerians with Apparently Sporadic Parkinson ...
    With the exception of the V380L and S167N polymorphisms, no other missense ... PARK2 gene variants in PD cases and controls. Other Sections. Abstract ...
    www.ncbi.nlm.nih.gov/pmc/articles/PMC2559870
  • Significance of the parkin and PINK1 gene in Jordanian ...
    MyhreRonnyronny.myhre@ntnu.noSteinkjerStinastina.steinkjer@gmail.comStormyrAlice ... mutations in either the parkin (PARK2) or PINK1 (PARK6) gene or on exceptional occasions ...
    www.biomedcentral.com/content/xml/1471-2377-8-47.xml
  • Parkin deletion causes cerebral and systemic amyloidosis in ...
    Deletions or point mutation of the Park-2 gene that codes for parkin, a protein ... with the V380L polymorphism of parkin, suggesting that the genetic variants of ...
    hmg.oxfordjournals.org/cgi/content/full/17/20/3128
  • BMC Neurology
    Significance of the parkin and PINK1 gene in Jordanian families with ... are often explained by mutations in either the parkin (PARK2) or PINK1 (PARK6) gene or on ...
    www.biomedcentral.com/content/pdf/1471-2377-8-47.pdf

Other in silico analyses
 

  • NBLOSUM100 score = 0
  • GET-Evidence autoscore = 3

Edit history
 

Gene search

"GENE" or "GENE A123C":

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