SLC6A4 I425V - GET-Evidence

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

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Curation:
Currentness:

SLC6A4 I425V

(SLC6A4 Ile425Val)


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

  • C @ chr17:28538374: 0.1% (10/10758) in EVS
  • Frequency shown in summary reports: 0.1% (10/10758)

Publications
 

Genomes
 

Other external references
 

    PolyPhen-2
  • Score: 0.218 (possibly damaging)
    Web search results (51 hits -- see all)
  • How the serotonin story is being rewritten by new gene-based ...
    gene variants, particularly in SLC6A4, the serotonin transporter gene; and finally, a consideration of the ... SLC6A4 I425V and other rare gene variants associated with OCD ...
    www.brain.psu.edu/pdf/2008Murphy_Neuropharmacology.pdf
  • A novel, putative gain-of-function haplotype at SLC6A4 ...
    we set out to investigate the role of additional functional SLC6A4 loci in OCD. ... SLC6A4, I425V (3) (termed OCD1' in Online Mendelian. Inheritance in Man), which results in ...
    hmg.oxfordjournals.org/cgi/reprint/17/5/717.pdf
  • Serotonin transporter - Wikipedia, the free encyclopedia
    I425V on the ninth exon [edit] Length variation in 5-HTTLPR. Main ... "Entrez Gene: SLC6A4 solute carrier family 6 (neurotransmitter transporter, ...
    en.wikipedia.org/wiki/Serotonin_transporter
  • Association of SLC6A4 variants with obsessive-compulsive ...
    The SLC6A4 gene is composed of two haplotype blocks (our data and the HapMap) ... OCD/OCPD) carried the rare I425V SLC6A4 variant, but none of them ...
    www.ncbi.nlm.nih.gov/pubmed/19806148
  • Support for the association between the rare functional ...
    ... between the rare functional variant I425V of the serotonin transporter gene and ... functional variant, I425V, in the serotonin transporter gene (SLC6A4) has been ...
    www.ncbi.nlm.nih.gov/pmc/articles/PMC2547479/?tool=pubmed
  • Molecular Psychiatry - Abstract of article: Association of ...
    The SLC6A4 gene is composed of two haplotype blocks (our data and the HapMap) ... with OCD/OCPD) carried the rare I425V SLC6A4 variant, but none of them passed it ...
    www.nature.com/mp/journal/vaop/ncurrent/abs/mp2009100a.html
  • FHA - Serotonin transporter phosphorylation by cGMP-dependent ...
    The effect of the I425V mutation may shift the balance of hSERT toward the ... Variation of the serotonin transporter gene SLC6A4 in the susceptibility to migraine with aura. ...
    find-health-articles.com/rec_pub_17913921-serotonin-trans...
  • Attenuation of the euphoriant and activating effects of d ...
    The SLC6A4 gene is composed of two haplotype blocks (our data and the HapMap) ... with OCD/OCPD) carried the rare I425V SLC6A4 variant, but none of them passed it ...
    lib.bioinfo.pl/pmid:1824
  • CrossRef Cited By Search Results : nature.com
    Nature - the world's best science and medicine on your desktop ... A Large Caseâ€"Control Study of Common Functional SLC6A4 and BDNF Variants in Obsessiveâ€"Compulsive Disorder ...
    www.nature.com/cited/cited.html?doi=10.1038/sj.mp.4001365
  • - Publications
    The SLC6A4 gene is composed of two haplotype blocks (our data and the HapMap) ... with OCD/OCPD) carried the rare I425V SLC6A4 variant, but none of them passed it ...
    www.phenomics.ucla.edu/publications.asp

Other in silico analyses
 

  • NBLOSUM100 score = –4
  • GET-Evidence autoscore = 5

Edit history
 

Gene search

"GENE" or "GENE A123C":

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