PRX P1083R - GET-Evidence

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

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Curation:
Currentness:

PRX P1083R

(PRX Pro1083Arg)


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

  • C @ chr19:40901011: 13.0% (1403/10758) in EVS
  • C @ chr19:45592850: 3.1% (4/128) in GET-Evidence
  • Frequency shown in summary reports: 13.0% (1403/10758)

Publications
 

Genomes
 

 

hu2DBF2D - CGI sample GS01173-DNA_G02 from PGP sample 67180598
hom C @ chr19:40901011

 

hu342A08 - CGI sample GS01175-DNA_B05 from PGP sample 83494370
het C @ chr19:40901011

 

 

hu72A81D - CGI sample GS01173-DNA_C02 from PGP sample 10366372
het C @ chr19:40901011

 

hu7A4AD1 - CGI sample GS01669-DNA_C05 from PGP sample 42408046
het C @ chr19:40901011

 

huC30901 - CGI sample GS00253-DNA_B01_200_37
het C @ chr19:40901011

 

GS20502 - var-GS20502-1100-36-ASM
het C @ chr19:45592851

 

GS20509 - var-GS20509-1100-36-ASM
het C @ chr19:45592851

 

Other external references
 

    dbSNP
  • rs3745202
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.793 (possibly damaging)
    Web search results (17 hits -- see all)
  • Periaxin Mutations Cause Recessive Dejerine-Sottas Neuropathy
    We hypothesized that mutations in PRX could cause human peripheral ... recessive PRX mutations—two with compound heterozygous nonsense and frameshift ...
    sciencedirect.com/science?_ob=MImg&...&ie=/sdarticle.pdf
  • Type III 98%
    ... kinase family Removed kinase gruop Effect Reference(s) for variant Reference(s) for ... Polymorphism (dbSNP:rs1047991) PRX Q9BXM0 P1083R 1082 VAR_013061 CK2 ...
    nih.go.kr/phosphovariant/html/family_whole/TypeIII_98.txt
  • Type III 97%
    ... Gene name SWISS-PROT ID Variant site Phosphorylation site SWISS-PROT variant ID ... Polymorphism (dbSNP:rs8078059) PRX Q9BXM0 P1083R 1082 VAR_013061 AGC ...
    www.nih.go.kr/phosphovariant/html/group_whole/TypeIII_97.txt
  • Defects in periaxin associated with myelinopathies - Patent ...
    The present invention relates to defects in periaxin (PRX) associated with myelinopathies, including Charcot-Marie-Tooth syndrome and/or Dejerine-Sottas syndrome. ...
    www.freepatentsonline.com/7273698.html
  • Defects in periaxin associated with myelinopathies - Patent ...
    The present invention relates to defects in periaxin (PRX) associated with myelinopathies, including Charcot-Marie-Tooth syndrome and/or Dejerine-Sottas syndrome. ...
    www.patentgenius.com/patent/7273698.html
  • Defects in periaxin associated with myelinopathies - Patent ...
    The present invention relates to defects in periaxin (PRX) associated with myelinopathies, including Charcot-Marie-Tooth syndrome and/or Dejerine-Sottas syndrome. ...
    www.freepatentsonline.com/7537899.html
  • Inherited Peripheral Neuropathies
    Mutations in PRX. Name. c.[176T>C]+[2145T>A] Alias [Leu59Pro]+[Cys715X] Description ... P1083R. Region. EX7. CDS. Date Added: 28-Jun-01. ID: 526. Name. c.3394G>A ...
    molgen.ua.ac.be/CMTMutations/Mutations/Mutations.cfm?...
  • Inherited Peripheral Neuropathies
    Lookup Mutations | Newest Entries | Submit Mutation | Table Legend ... Mutations in PRX. Name. c.306C>T. Alias. Thr102Thr. Description. Point mutation in coding ...
    molgen.ua.ac.be/CMTMutations/Mutations/Mutations.cfm?...

Other in silico analyses
 

  • NBLOSUM100 score = 5
  • GET-Evidence autoscore = 3

Edit history
 

Gene search

"GENE" or "GENE A123C":

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