Variant: rs121909342 

    present in Gene: DCTN1
    present in Chromosome: 2
    Position on Chromosome: 74378104
    Alleles of this Variant: C/G;T

rs121909342 in DCTN1 gene and AMYOTROPHIC LATERAL SCLEROSIS 1 PMID 27573046 2016 Distal hereditary motor neuropathy type 7B with Dynactin 1 mutation.

PMID 23143281 2013 The dynactin p150 subunit: cell biology studies of sequence changes found in ALS/MND and Parkinsonian syndromes.

PMID 18364389 2008 Lysosomal proliferation and distal degeneration in motor neurons expressing the G59S mutation in the p150Glued subunit of dynactin.

PMID 12627231 2003 Mutant dynactin in motor neuron disease.

PMID 18094236 2007 The G59S mutation in p150(glued) causes dysfunction of dynactin in mice.

PMID 16505168 2006 A motor neuron disease-associated mutation in p150Glued perturbs dynactin function and induces protein aggregation.

PMID 19279216 2009 Neurodegeneration mutations in dynactin impair dynein-dependent nuclear migration.

rs121909342 in DCTN1 gene and Neuronopathy, Distal Hereditary Motor, Type Viib PMID 18364389 2008 Lysosomal proliferation and distal degeneration in motor neurons expressing the G59S mutation in the p150Glued subunit of dynactin.

PMID 19279216 2009 Neurodegeneration mutations in dynactin impair dynein-dependent nuclear migration.

PMID 19136952 2009 DCTN1 mutations in Perry syndrome.

PMID 27573046 2016 Codon 59 appears to be the mutational hot spot in the DCTN1 gene, as all described dHMN7B patients to date have harbored an identical p.G59S mutation.

PMID 22777741 2012 Tubulin-binding cofactor B is a direct interaction partner of the dynactin subunit p150(Glued).

PMID 18094236 2007 The G59S mutation in p150(glued) causes dysfunction of dynactin in mice.

PMID 12627231 2003 Mutant dynactin in motor neuron disease.

PMID 16505168 2006 A motor neuron disease-associated mutation in p150Glued perturbs dynactin function and induces protein aggregation.

PMID 23143281 2013 The dynactin p150 subunit: cell biology studies of sequence changes found in ALS/MND and Parkinsonian syndromes.

rs121909342 in DCTN1 gene and Perry Syndrome PMID 12627231 2003 Mutant dynactin in motor neuron disease.

PMID 23143281 2013 The dynactin p150 subunit: cell biology studies of sequence changes found in ALS/MND and Parkinsonian syndromes.

PMID 16505168 2006 A motor neuron disease-associated mutation in p150Glued perturbs dynactin function and induces protein aggregation.

PMID 18094236 2007 The G59S mutation in p150(glued) causes dysfunction of dynactin in mice.

PMID 27573046 2016 Distal hereditary motor neuropathy type 7B with Dynactin 1 mutation.

PMID 19279216 2009 Neurodegeneration mutations in dynactin impair dynein-dependent nuclear migration.

PMID 18364389 2008 Lysosomal proliferation and distal degeneration in motor neurons expressing the G59S mutation in the p150Glued subunit of dynactin.