KEGG   VARIANT: 7249v1
Entry
7249v1                      Variant                                
Name
TSC2 mutation
Type
Loss of function
Gene
TSC2  TSC complex subunit 2 [KO:K07207]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 191092
Network
nt06522  mTOR signaling
Disease
H00896  Lymphangioleiomyomatosis
H00915  Tuberous sclerosis complex
H01251  Focal cortical dysplasia of Taylor
Reference
  Authors
Sato T, Seyama K, Fujii H, Maruyama H, Setoguchi Y, Iwakami S, Fukuchi Y, Hino O
  Title
Mutation analysis of the TSC1 and TSC2 genes in Japanese patients with pulmonary lymphangioleiomyomatosis.
  Journal
J Hum Genet 47:20-8 (2002)
DOI:10.1007/s10038-002-8651-8
Reference
  Authors
Langkau N, Martin N, Brandt R, Zugge K, Quast S, Wiegele G, Jauch A, Rehm M, Kuhl A, Mack-Vetter M, Zimmerhackl LB, Janssen B
  Title
TSC1 and TSC2 mutations in tuberous sclerosis, the associated phenotypes and a model to explain observed TSC1/ TSC2 frequency ratios.
  Journal
Eur J Pediatr 161:393-402 (2002)
DOI:10.1007/s00431-001-0903-7
Reference
  Authors
Lugnier C, Majores M, Fassunke J, Pernhorst K, Niehusmann P, Simon M, Nellist M, Schoch S, Becker A
  Title
Hamartin variants that are frequent in focal dysplasias and cortical tubers have reduced tuberin binding and aberrant subcellular distribution in vitro.
  Journal
J Neuropathol Exp Neurol 68:1136-46 (2009)
DOI:10.1097/NEN.0b013e3181b9a699
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