PRX I921M - 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:

(See the latest version)

PRX I921M

(PRX Ile921Met)


You are viewing an old version of this page that was saved on June 23, 2011 at 12:11am by Genome Importing Robot.

Short summary

 

Variant evidence
Computational 3

Variant Effect Predictor (Ensembl ):
SIFT=tolerated(0.1);
PolyPhen=benign(0);
Condel=deleterious(0.900)
Mutation Tasting prediction: Polymorphism p value: 0.999999; no protein features affected.
GVGD: GV 234.99; GD 0.00; Class C0
Multi-alignment of Q9BXM0.2 periaxin isoform 2 [Homo sapiens] with:
XP_002829274.1 [Pongo abelii] XP_002762178.1 [Callithrix jacchus] XP_002808239.1 [Macaca mulatta] NP_932165.2 [Mus musculus] EDM07952.1 [Rattus norvegicus] XP_541615.2 [Canis familiaris]

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 @ chr19:40901496: 36.4% (3917/10758) in EVS
  • C @ chr19:45593335: 21.9% (28/128) in GET-Evidence
  • Frequency shown in summary reports: 36.4% (3917/10758)

Publications
 

Genomes
 

 

hu43860C - CGI sample GS00253-DNA_A01_200_37
het C @ chr19:40901496

 

hu604D39 - CGI sample GS00253-DNA_B02_200_37
het C @ chr19:40901496

 

 

huC30901 - CGI sample GS00253-DNA_B01_200_37
het C @ chr19:40901496

 

huE80E3D - CGI sample GS00253-DNA_D01_200_37
het C @ chr19:40901496

 

GS07357 - var-GS07357-1100-36-ASM
het C @ chr19:45593336

 

GS18501 - var-GS18501-1100-36-ASM
het C @ chr19:45593336

 

GS18502 - var-GS18502-1100-36-ASM
het C @ chr19:45593336

 

GS18504 - var-GS18504-1100-36-ASM
het C @ chr19:45593336

 

GS18508 - var-GS18508-1100-36-ASM
het C @ chr19:45593336

 

GS18517 - var-GS18517-1100-36-ASM
hom C @ chr19:45593336

 

GS18558 - var-GS18558-1100-36-ASM
het C @ chr19:45593336

 

GS19026 - var-GS19026-1100-36-ASM
het C @ chr19:45593336

 

GS19238 - var-GS19238-1100-36-ASM
het C @ chr19:45593336

 

GS19240 - var-GS19240-1100-36-ASM
het C @ chr19:45593336

 

GS19648 - var-GS19648-1100-36-ASM
hom C @ chr19:45593336

 

GS19670 - var-GS19670-1100-36-ASM
het C @ chr19:45593336

 

GS19704 - var-GS19704-1100-36-ASM
hom C @ chr19:45593336

 

GS19735 - var-GS19735-1100-36-ASM
hom C @ chr19:45593336

 

GS20502 - var-GS20502-1100-36-ASM
het C @ chr19:45593336

 

GS20509 - var-GS20509-1100-36-ASM
het C @ chr19:45593336

 

NA18517

 

Deleted in this revision:

NA18517

 

Other external references
 

    dbSNP
  • rs268673
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0 (benign)
    Web search results (9 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
  • 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
    last updated 17-Dec-07. Mutations in PRX. Name. c.[176T>C]+[2145T>A] ... I921M. Region. EX7. CDS. Date Added: 28-Jun-01. ID: 527. Name. c.[2787delC]+[2787delC] Alias ...
    molgen.ua.ac.be/CMTMutations/Mutations/Mutations.cfm?...
  • Inherited Peripheral Neuropathies
    Mutations in PRX. Name. c.306C>T. Alias. Thr102Thr. Description. Point ... I921M. Region. EX7. CDS. Date Added: 28-Jun-01. ID: 527. Name. c.[2787delC]+[2787delC] Alias ...
    molgen.ua.ac.be/CMTMutations/Mutations/Mutations.cfm?...

Other in silico analyses
 

  • NBLOSUM100 score = –1
  • GET-Evidence autoscore = 3

Edit history
 

Gene search

"GENE" or "GENE A123C":

Log in