KEGG   VARIANT: 351v1
Entry
351v1                      Variant                                 

Name
APP mutation
Gene
APP  amyloid beta precursor protein [KO:K04520]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 104760
Network
nt06410  Calcium signaling
nt06412  Unfolded protein response (UPR) signaling
nt06414  Apoptosis
nt06417  AGE-RAGE signaling
nt06418  Oxidative phosphorylation
nt06419  Microtubule-based transport
nt06420  Ubiquitin-proteasome system
nt06460  Alzheimer disease
  Element
N00996  Mutation-caused aberrant Abeta to AGE-RAGE signaling pathway
N00997  Mutation-caused aberrant Abeta to electron transfer in Complex I
N00999  Mutation-caused aberrant Abeta to electron transfer in Complex IV
N01001  Mutation-caused aberrant Abeta to mAchR-Ca2+ -apoptotic pathway
N01002  Mutation-caused aberrant Abeta to mGluR5-Ca2+ -apoptotic pathway
N01003  Mutation-caused aberrant Abeta to transport of calcium
N01004  Mutation-caused aberrant Abeta to VGCC-Ca2+ -apoptotic pathway
N01005  Mutation-caused aberrant Abeta to crosstalk between extrinsic and intrinsic apoptotic pathways
N01006  Mutation-caused aberrant Abeta to VGCC-Ca2+ -apoptotic pathway
N01014  Mutation-caused aberrant Abeta to IRE1a-JNK signaling pathway
N01018  Mutation-caused aberrant Abeta to anterograde axonal transport
N01060  Mutation-caused aberrant Abeta to 26S proteasome-mediated protein degradation
Reference
  Authors
Zhang G, Xie Y, Wang W, Feng X, Jia J
  Title
Clinical characterization of an APP mutation (V717I) in five Han Chinese families with early-onset Alzheimer's disease.
  Journal
J Neurol Sci 372:379-386 (2017)
DOI:10.1016/j.jns.2016.10.039
Reference
  Authors
Finckh U, Kuschel C, Anagnostouli M, Patsouris E, Pantes GV, Gatzonis S, Kapaki E, Davaki P, Lamszus K, Stavrou D, Gal A
  Title
Novel mutations and repeated findings of mutations in familial Alzheimer disease.
  Journal
Neurogenetics 6:85-9 (2005)
DOI:10.1007/s10048-005-0211-x
Reference
PMID:1944558
  Authors
Chartier-Harlin MC, Crawford F, Houlden H, Warren A, Hughes D, Fidani L, Goate A, Rossor M, Roques P, Hardy J, et al.
  Title
Early-onset Alzheimer's disease caused by mutations at codon 717 of the beta-amyloid precursor protein gene.
  Journal
Nature 353:844-6 (1991)
DOI:10.1038/353844a0
Reference
  Authors
Walsh DM, Hartley DM, Condron MM, Selkoe DJ, Teplow DB
  Title
In vitro studies of amyloid beta-protein fibril assembly and toxicity provide clues to the aetiology of Flemish variant (Ala692-->Gly) Alzheimer's disease.
  Journal
Biochem J 355:869-77 (2001)
DOI:10.1042/bj3550869

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