SCN9A V1299F - 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:

SCN9A V1299F

(SCN9A Val1299Phe)


Short summary

 

Variant evidence
Computational -
Functional -
Case/Control -
Familial -
 
Clinical importance
Severity -
Treatability -
Penetrance -
 

Impact

Insufficiently evaluated pathogenic

(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

  • None available.

Publications
 

Genomes
 

Other external references
 

    GeneTests
  • GeneTests records for the SCN9A gene
    Congenital Indifference to Pain, Autosomal Recessive
    Paroxysmal Extreme Pain Disorder
    SCN9A-Related Inherited Erythromelalgia
    www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/SCN9A
    Web search results (13 hits -- see all)
  • Clinical Study
    of a distinct repertoire of SCN9A mutations in PEPD, to- gether with detailed functional ... V1298D (proband only, family 12); brown, V1299F (family 11); red, I1461T (family 1) ...
    www.jefferson.edu/JCGS/phd/neuroscience/documents/Tsart1.pdf
  • Paroxysmal extreme pain disorder - Wikipedia, the free ...
    ... mutations in the voltage-gated sodium channel NaV1.7 encoded by the gene SCN9A. ... in this region (V1298F, F1298D and V1299F) that are believed to alter the ...
    en.wikipedia.org/wiki/Paroxysmal_extreme_pain_disorder
  • Paroxysmal extreme pain disorder: Encyclopedia of chemistry ...
    Paroxysmal extreme pain disorder. Encyclopedia of chemistry, analytics & pharmaceutics with 64,557 entries.
    www.chemie.de/lexikon/e/Paroxysmal_extreme_pain_disorder
  • IUPHAR DATABASE | Voltage-Gated Sodium Channels | Na<sub>v ...
    Scn9a. 189-190. Mouse. 24. 1. 1975. NP_061340. 2 C1.3. Scn9a. 191-192. Ion Selectivity and ... V1299F. 205. Missense. Human. V1298F. 205. Missense. Human. V1298D. 205 ...
    iuphar-db.org/DATABASE/...?objectId=584&familyId=82
  • NaV1.7 Gain-of-Function Mutations as a Continuum: A1632E ...
    ... and direct sequencing of all exons of SCN9A identified a heterozygous 4895C > A ... (2006) SCN9A mutations in paroxysmal extreme pain disorder: allelic variants ...
    www.jneurosci.org/cgi/content/full/28/43/11079
  • Supplemental Data SCN9A Mutations in Paroxysmal Extreme Pain ...
    Additional families without mutations in SCN9A. In addition to the largest pedigree, ... (E) V1299F. Sequence from individual IV:7, family 11, heterozygous for ...
    download.cell.com/neuron/.../PIIS0896627306008051.mmc1.pdf
  • pepd-ion channel citations
    Ion channel articles relating to 'pepd' ... We functionally characterized two of the D3/S4-S5 PEPD mutations (V1298F and V1299F) and compared their effects on ...
    www.ionchannels.org/showcitationlist.php?keyword=pepd
  • Paroxysmal extreme pain disorder
    Paroxysmal extreme pain disorder (PEPD), originally named familial rectal pain ... gene SCN9A aids in appropriate diagnosis as this gene is mutated in 8 ...
    www.lumrix.net/health/Paroxysmal_extreme_pain_disorder.html
  • Paroxysmal extreme pain disorder - wikidoc
    ... mutations in the voltage-gated sodium channel NaV1.7 encoded by the gene SCN9A. ... in this region (V1298F, F1298D and V1299F) that are believed to alter the ...
    www.wikidoc.org/index.php/Paroxysmal_extreme_pain_disorder
  • A Nav1.7 Channel Mutation Associated with Hereditary ...
    BioInfoBank Library :: A Nav1.7 Channel Mutation Associated with Hereditary Erythromelalgia Contributes to Neuronal Hyperexcitability and Displays Reduced Lidocaine ...
    lib.bioinfo.pl/pmid:17430993

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

Log in