Variant: rs121909525 

    present in Gene: ACTA1
    present in Chromosome: 1
    Position on Chromosome: 229431994
    Alleles of this Variant: C/A;G

rs121909525 in ACTA1 gene and Actin-Accumulation Myopathy PMID 15198992 2004 Evidence for a dominant-negative effect in ACTA1 nemaline myopathy caused by abnormal folding, aggregation and altered polymerization of mutant actin isoforms.

PMID 11333380 2001 Nemaline myopathy caused by mutations in the muscle alpha-skeletal-actin gene.

PMID 15520409 2004 Missense mutations of ACTA1 cause dominant congenital myopathy with cores.

PMID 17705262 2007 Intranuclear rod myopathy: molecular pathogenesis and mechanisms of weakness.

PMID 16427282 2006 Autosomal dominant nemaline myopathy with intranuclear rods due to mutation of the skeletal muscle ACTA1 gene: clinical and pathological variability within a kindred.

PMID 11166164 2001 Mild phenotype of nemaline myopathy with sleep hypoventilation due to a mutation in the skeletal muscle alpha-actin (ACTA1) gene.

PMID 22510848 2012 Clinical utility gene card for: nemaline myopathy.

PMID 22442437 2012 Nemaline myopathy with stiffness and hypertonia associated with an ACTA1 mutation.

PMID 10508519 1999 Mutations in the skeletal muscle alpha-actin gene in patients with actin myopathy and nemaline myopathy.

PMID 25938801 2015 Association of a Novel ACTA1 Mutation With a Dominant Progressive Scapuloperoneal Myopathy in an Extended Family.

PMID 23650303 2013 Nemaline myopathy with dilated cardiomyopathy in childhood.

PMID 15336687 2004 Follow-up of nemaline myopathy in two patients with novel mutations in the skeletal muscle alpha-actin gene (ACTA1).

PMID 15236405 2004 Heterogeneity of nemaline myopathy cases with skeletal muscle alpha-actin gene mutations.

PMID 16945537 2006 Fatal hypertrophic cardiomyopathy and nemaline myopathy associated with ACTA1 K336E mutation.

rs121909525 in ACTA1 gene and Neuromuscular Diseases PMID 15226407 2004 Myopathy mutations in alpha-skeletal-muscle actin cause a range of molecular defects.

PMID 25525159 2015 RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.

PMID 19562689 2009 Mutations and polymorphisms of the skeletal muscle alpha-actin gene (ACTA1).

PMID 17227580 2007 Phenotypes of myopathy-related actin mutants in differentiated C2C12 myotubes.

PMID 25470062 2015 Structure of the F-actin-tropomyosin complex.

PMID 12921789 2003 Muscle disease caused by mutations in the skeletal muscle alpha-actin gene (ACTA1).