HSPB1 T151I - GET-Evidence

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

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Curation:
Currentness:

HSPB1 T151I

(HSPB1 Thr151Ile)


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: 0.06 (benign)
    Web search results (15 hits -- see all)
  • 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
  • OMIM: 602195
    0003 NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIB HSPB1, THR151ILE In affected members of a Croatian ... of the HSPB1 gene, resulting in a thr151-to-ile (T151I) substitution. ...
    www.genome.jp/dbget-bin/www_bget?omim+602195
  • 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 ...
    T151I. HSP27, P182L. HSP27, and. P182S. HSP27 (all associated with dHMN ... HSPB1 leading to distal hereditary motor neuronopathy dis- rupts neurofilament assembly ...
    www.fasebj.org/cgi/reprint/20/12/2168.pdf
  • OMIM: 147450
    SOD2 (147460) is a distinct mitochondrial enzyme that contains manganese; the ... Moreover, chaperones Hsp25 (HSPB1; 602195) and alpha-B-crystallin (CRYAB; 123590) ...
    www.genome.jp/htbin/www_bget?omim+147450
  • 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
  • Type I- 99%
    ... colorectal cancer sample, somatic mutation 16959974 HSPB1 P04792 T151I 151 VAR_018509 PIKK (0.956) dHMN 15122254 C10orf11 Q9H2I8 S153F 153 VAR_033686 ...
    www.nih.go.kr/phosphovariant/html/family_whole/TypeI-_99.txt
  • Type I- 97%
    Gene name SWISS-PROT ID Variant site Phosphorylation site SWISS-PROT variant ID ... CK1 (0.632) Con1-, abolishes the glycosylation site at position 238 8554050 NME1 ...
    www.nih.go.kr/phosphovariant/html/family_whole/TypeI-_97.txt
  • Inherited Peripheral Neuropathies
    Mutations in HSPB1. Name. c.379C>T. Alias. Arg127Trp. Description. Point mutation in coding ... T151I. Region. EX3. CDS. Hsp20-alpha-crystallin. Date Added: 03-May-04. ID: ...
    molgen.ua.ac.be/CMTMutations/Mutations/Mutations.cfm?...
  • 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 a thr151-to-ile (T151I) sostituzione. ...
    www.fonama.org/i_omim/mito6/i_602195.html

Other in silico analyses
 

  • NBLOSUM100 score = 3
  • GET-Evidence autoscore = 4

Edit history
 

Gene search

"GENE" or "GENE A123C":

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