Variant: rs121909112 

    present in Gene: HSPB1
    present in Chromosome: 7
    Position on Chromosome: 76303855
    Alleles of this Variant: C/G

rs121909112 in HSPB1 gene and CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F PMID 28595321 2017 Mitochondrial deficits and abnormal mitochondrial retrograde axonal transport play a role in the pathogenesis of mutant Hsp27-induced Charcot Marie Tooth Disease.

PMID 27816334 2017 Pilot phenotype and natural history study of hereditary neuropathies caused by mutations in the HSPB1 gene.

PMID 23643870 2013 Physico-chemical properties of R140G and K141Q mutants of human small heat shock protein HspB1 associated with hereditary peripheral neuropathies.

PMID 18832141 2008 Mutations in the HSP27 (HSPB1) gene cause dominant, recessive, and sporadic distal HMN/CMT type 2.

PMID 28702508 2017 Homozygous mutation in HSPB1 causing distal vacuolar myopathy and motor neuropathy.

rs121909112 in HSPB1 gene and NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIB PMID 23728742 2013 Charcot-Marie-Tooth causing HSPB1 mutations increase Cdk5-mediated phosphorylation of neurofilaments.

PMID 20870250 2010 A novel HSPB1 mutation in an Italian patient with CMT2/dHMN phenotype.

PMID 25965061 2015 Characterization of Mutants of Human Small Heat Shock Protein HspB1 Carrying Replacements in the N-Terminal Domain and Associated with Hereditary Motor Neuron Diseases.

PMID 18952241 2009 A clinical phenotype of distal hereditary motor neuronopathy type II with a novel HSPB1 mutation.

PMID 20178975 2010 Increased monomerization of mutant HSPB1 leads to protein hyperactivity in Charcot-Marie-Tooth neuropathy.

PMID 22176143 2011 HSPB1 and HSPB8 in inherited neuropathies: study of an Italian cohort of dHMN and CMT2 patients.

PMID 18832141 2008 Mutations in the HSP27 (HSPB1) gene cause dominant, recessive, and sporadic distal HMN/CMT type 2.

PMID 15122254 2004 Mutant small heat-shock protein 27 causes axonal Charcot-Marie-Tooth disease and distal hereditary motor neuropathy.

PMID 23948568 2013 Structure and properties of G84R and L99M mutants of human small heat shock protein HspB1 correlating with motor neuropathy.

PMID 23643870 2013 Physico-chemical properties of R140G and K141Q mutants of human small heat shock protein HspB1 associated with hereditary peripheral neuropathies.

PMID 28144995 2017 Axonal Neuropathies due to Mutations in Small Heat Shock Proteins: Clinical, Genetic, and Functional Insights into Novel Mutations.