KEGG   VARIANT: 60v2
Entry
60v2                      Variant                                  
Name
ACTB gain of function mutation
Gene
ACTB  actin beta [KO:K05692]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 102630
Network
nt06539  Cytoskeleton in muscle cells
Disease
H01255  Juvenile-onset dystonia
H02023  Baraitser-Winter syndrome
Reference
  Authors
Riviere JB, van Bon BW, Hoischen A, Kholmanskikh SS, O'Roak BJ, Gilissen C, Gijsen S, Sullivan CT, Christian SL, Abdul-Rahman OA, Atkin JF, Chassaing N, Drouin-Garraud V, Fry AE, Fryns JP, Gripp KW, Kempers M, Kleefstra T, Mancini GM, Nowaczyk MJ, van Ravenswaaij-Arts CM, Roscioli T, Marble M, Rosenfeld JA, Siu VM, de Vries BB, Shendure J, Verloes A, Veltman JA, Brunner HG, Ross ME, Pilz DT, Dobyns WB
  Title
De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome.
  Journal
Nat Genet 44:440-4, S1-2 (2012)
DOI:10.1038/ng.1091
Reference
  Authors
Hundt N, Preller M, Swolski O, Ang AM, Mannherz HG, Manstein DJ, Muller M
  Title
Molecular mechanisms of disease-related human beta-actin mutations p.R183W and p.E364K.
  Journal
FEBS J 281:5279-91 (2014)
DOI:10.1111/febs.13068
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