KEGG VARIANT: 2475v1

VARIANT: 2475v1

Entry

2475v1                      Variant

Name

mTOR mutation

Type

Gain of function

Gene

MTOR mechanistic target of rapamycin kinase [KO:K07203]

Organism

hsa_var Human gene variants (Homo sapiens)

Variation

mutations
OmimVar: 601231

Network

nt06522 mTOR signaling

Disease

Focal cortical dysplasia of Taylor

Smith-Kingsmore syndrome

Reference

Authors

Moosa S, Bohrer-Rabel H, Altmuller J, Beleggia F, Nurnberg P, Li Y, Yigit G, Wollnik B

Title

Smith-Kingsmore syndrome: A third family with the MTOR mutation c.5395G>A p.(Glu1799Lys) and evidence for paternal gonadal mosaicism.

Journal

Am J Med Genet A 173:264-267 (2017)
DOI:10.1002/ajmg.a.37999

Reference

Authors

Lim JS, Kim WI, Kang HC, Kim SH, Park AH, Park EK, Cho YW, Kim S, Kim HM, Kim JA, Kim J, Rhee H, Kang SG, Kim HD, Kim D, Kim DS, Lee JH

Title

Brain somatic mutations in MTOR cause focal cortical dysplasia type II leading to intractable epilepsy.

Journal

Nat Med 21:395-400 (2015)
DOI:10.1038/nm.3824

LinkDB

DBGET integrated database retrieval system