NLGN3 R451C - GET-Evidence

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

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Curation:
Currentness:

NLGN3 R451C

(NLGN3 Arg451Cys)


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
 

    PolyPhen-2
  • Score: 1.0 (probably damaging)
    Web search results (83 hits -- see all)
  • JAX Mice Database - 008475 B6;129-Nlgn3<tm1Sud>/J
    These mice carry an R451C mutation in exon 7 of the Nlgn3 (neuroligin 3) gene. mRNA is detected by real-time PCR analysis of brain from homozygous animals. ...
    jaxmice.jax.org/strain/008475.html
  • Disorder-associated mutations lead to functional inactivation ...
    Given the association of the R451C mutation in NLGN3 and the D396X nonsense mutation in ... The NL3 R451C mutant yielded a protein of slightly different ...
    hmg.oxfordjournals.org/cgi/content/full/13/14/1471
  • Mutations of the X-linked genes encoding neuroligins NLGN3 ...
    Mutations of the X-linked genes encoding neuroligins NLGN3 and NLGN4 are associated with autism ... The family with the NLGN3 mutation (R451C) comprised a 24-year-old ...
    www.ncbi.nlm.nih.gov/pmc/articles/PMC1925054/?tool=pmcentrez
  • Disorder-associated mutations lead to functional inactivation ...
    mutation arginine 451 to cysteine (R451C) in another family ... Given the association of the R451C mutation in NLGN3 and. the D396X nonsense mutation in ...
    hmg.oxfordjournals.org/cgi/reprint/13/14/1471.pdf
  • Annals of General Psychiatry | Full text | Molecular analysis ...
    The mutations Y74Y and R451C of the NLGN3 gene were screened in our ... The dHPLC screen for the R451C mutation has so far been performed in 200 out of 367 ...
    www.annals-general-psychiatry.com/content/7/S1/S133
  • European Journal of Human Genetics - Analysis of four ...
    Recently, two X-chromosomal neuroligin genes, NLGN3 and NLGN4, were shown to be mutated ... Third, both R451C mutation in NLGN3 and D396X mutation in NLGN4 lead ...
    www.nature.com/ejhg/journal/v13/n12/full/5201474a.html
  • Wolfson
    58100 Holon Israel Telephone: (+972)-3-5028692 Fax: (+972)-3-5028693 58100 Holon ... NLGN3; NLGN4X; sequencing. NLGN3; [R451C] NLGN4X; [1253delAG], [D396X] ...
    goldenhelix.org/israeli/...+Genetics+Laboratory.html
  • Autistic phenotypes and genetic testing: state-of-the-art for ...
    and a missense (R451C in NLGN3) mutation in two unrelated. Swedish families, both ... NLGN3/NLGN4 gene mutations are not responsible for autism in the ...
    jmg.bmj.com/content/46/1/1.full.pdf+html
  • Mutations
    Description des mutations des gènes Shank3, NLG3 et NLG4 dans l'autisme et leurs effets sur l'acquisition du langage. ... NLGN3 R451C et NLGN4 D396X sont des noms de mutations. ...
    www.cerveautisme.biz/mutations.html
  • P E R S P E C T I V E
    Functional studies of the NLGN3 R451C and NLGN4 D936X mutations ... 39. Gauthier, J. et al. NLGN3/NLGN4 gene mutations are not responsible for ...
    www.nfxf.org/BelmonteNatureNeuroscienceNov2006.pdf

Other in silico analyses
 

  • NBLOSUM100 score = 8
  • GET-Evidence autoscore = 6

Edit history
 

Gene search

"GENE" or "GENE A123C":

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