HSPB1 R127W - GET-Evidence

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

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Curation:
Currentness:

HSPB1 R127W

(HSPB1 Arg127Trp)


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: 0.999 (probably damaging)
    Web search results (12 hits -- see all)
  • HSPB1 - heat shock 27kDa protein 1 - Genetics Home Reference
    The HSPB1 gene provides instructions for making a protein called heat shock protein beta ... at position 127 (Arg127Trp or R127W) or position 136 (Arg136Trp or ...
    ghr.nlm.nih.gov/gene=hspb1
  • OMIM: 602195
    No HSPB1 mutations were found in 90 families with CMT2. Allelic ... in exon 2 of the HSPB1 gene, resulting in an arg127-to-trp (R127W) substitution. ...
    www.genome.jp/dbget-bin/www_bget?omim+602195
  • ESTUDIOS-COMPUTACIONALES-ESTRUCTURA-PROTEINAS-SALVAJES ...
    ESTUDIOS COMPUTACIONALES DE ESTRUCTURA DE LAS PROTEINAS SALVAJES Y MUTADAS HSP27, ALPHA B-CRISTALINA Y HSPB8 ... 11) y las mutaciones S135F, R127W, T151l, P182L con la entidad ...
    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
  • Abnormal small heat shock protein interactions involving ...
    R127W. HSP27, S135F. HSP27, R136W. HSP27, T151I. HSP27, P182L. HSP27, and ... HSPB1 leading to distal hereditary motor neuronopathy dis- rupts neurofilament assembly ...
    www.fasebj.org/cgi/reprint/20/12/2168.pdf
  • WUSTL - Sindromi motorie ereditarie
    l HSPB1 (HSP 27) ; Cromosoma 7q11-q21; Dominante. Epidemiologia: ... Missenso mutazioni: R127W; S135F; T151I; P182L. Stesso mutazione genetica in: CMT 2F ...
    www.fonama.org/i_neuro.wustl.edu/i_synmot.html
  • OMIM 602195 - Proteina shock termico 1 da 27 KD; HSPB1
    Houlden ed altri (2008) identificarono 4 differenti eterozigoti mutazioni nel HSPB1 gene (vedi, per es. ... 2 della HSPB1 gene, causante in un arg127-to-trp (R127W) sostituzione. ...
    www.fonama.org/i_omim/mito6/i_602195.html
  • Inherited Peripheral Neuropathies
    Mutations in HSPB1. Name. c.379C>T. Alias. Arg127Trp. Description. Point mutation in coding ... R127W. Region. EX2. CDS. Hsp20-alpha-crystallin. Date Added: 03-May-04. ID: ...
    molgen.ua.ac.be/CMTMutations/Mutations/Mutations.cfm?...
  • IAP – PHASE VI
    Personnel working in the frame of the IAP-project 2 (Not paid by the ... No mutations were found in the NEFL, HSPB1, HSPB8, GARS, DNM2, and GDAP1 genes. ...
    molgen.ua.ac.be/iap6/docs/IAP P6-43 Annual Report 2007.doc

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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