HSPB1 P182L - GET-Evidence

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

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Curation:
Currentness:

HSPB1 P182L

(HSPB1 Pro182Leu)


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 HSPB1 gene
    Charcot-Marie-Tooth Neuropathy Type 2
    Charcot-Marie-Tooth Neuropathy Type 2F
    Distal Hereditary Motor Neuronopathy, Type IIB
    www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/HSPB1
    PolyPhen-2
  • Score: 1.0 (probably damaging)
    Web search results (48 hits -- see all)
  • A mutation in the small heat-shock protein HSPB1 leading to ...
    Mutant (P182L) but not wild-type HSPB1 led to the formation of insoluble intracellular ... However, the P182L mutant HSPB1 failed to be transported to the same ...
    hmg.oxfordjournals.org/cgi/content/full/15/2/347
  • A mutation in the small heat-shock protein HSPB1 leading to ...
    Expression of wt HSPB1 fails to prevent aggregation of mutant P182L HSPB1. ... Transfected HA-tagged HSPB1 (A and C) is detected using antibody against the HA tag, ...
    hmg.oxfordjournals.org/cgi/content/full/15/2/347/DDI452F3
  • A mutation in the small heat-shock protein HSPB1 leading to ...
    Mutations in the small heat-shock protein HSPB1 (HSP27) are ... Mutant (P182L) but not wild-type HSPB1 led to the formation of insoluble intracellular aggregates and to the ...
    www.neuroscience.ox.ac.uk/pubs/publications/AckerleyEtAl2006
  • OMIM: 602195
    0003 NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIB HSPB1, THR151ILE In affected members of a Croatian ... of the HSPB1 gene, resulting in a pro182-to-leu (P182L) substitution. ...
    www.genome.jp/dbget-bin/www_bget?omim+602195
  • Téléthon(ABMM) steunt ALS onderzoeken 2009
    Vervolgens zullen we een muis creëren P182L-distale HSPB1 NMH, we zullen het fenotype kenmerken en zullen het ... vergelijken met het fenotype van de muizen S135F-HSPB1 CMT2. ...
    alsliga.be/index.php?id=976&language=fr//as...oth.php?...
  • Mutant small heat-shock protein 27 causes axonal Charcot ...
    HSPB1 in 301 individuals with CMT and 115 individuals with ... D7S2455 and D7S675) flanking HSPB1 indicated that the four. Russian families probably had ...
    www.dnalab.ru/?node_id=575
  • ESTUDIOS-COMPUTACIONALES-ESTRUCTURA-PROTEINAS-SALVAJES ...
    ESTUDIOS COMPUTACIONALES DE ESTRUCTURA DE LAS PROTEINAS SALVAJES Y MUTADAS HSP27, ALPHA B-CRISTALINA Y HSPB8
    biblioteca.universia.net/html_bura/ficha/.../49383165.html
  • Hereditary Motor Syndromes
    l HSPB1 (HSP 27) ; Chromosome 7q11.23; Dominant or Recessive. Epidemiology: Families from ... Missense mutations: R127W; S135F; T151I; P182L. Same gene mutated in: CMT 2F. Distal ...
    neuromuscular.wustl.edu/synmot.html
  • To download the entire bibliography in plain text format ...
    Mutations in the small heat-shock protein HSPB1 (HSP27) are responsible for one form of ... Mutant (P182L) but not wild-type HSPB1 led to the formation of ...
    smafoundation.org/index.php?option=com_bibliography&...
  • ABMM - Telethon Belgique
    Site officiel francophone du Telethon Belgique et de l'ABMM (Association Belge contre les Maladies neuro-Musculaires ASBL)
    wmaker.net/telethon/Les-projets-de-recherche-2009-13-proj...

Other in silico analyses
 

  • NBLOSUM100 score = 7
  • GET-Evidence autoscore = 6

Edit history
 

Gene search

"GENE" or "GENE A123C":

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