OMIM_GOF@xiajingbo:104311-20-PSEN1 JSONTXT

{"target":"http://pubannotation.org/docs/sourcedb/OMIM_GOF@xiajingbo/sourceid/104311-20-PSEN1","sourcedb":"OMIM_GOF@xiajingbo","sourceid":"104311-20-PSEN1","text":"Lewis et al. (2000) showed that cys92-to-ser (C92S), the PS1 homolog of the C. elegans sel-12 loss of function mutation cys60 to ser, increased amyloid beta-42 production when expressed in a neuroglioma cell line, similar to other pathogenic PS1 mutations. They noted, but did not cite, a report identifying C92S as the pathogenic mutation in an Italian family with familial Alzheimer disease (AD3; 607822). The results suggested that all FAD-linked PS1 mutations result in increased amyloid beta-42 production through a partial loss of function mechanism.","tracks":[{"project":"AGAC-2-1","denotations":[{"id":"T1","span":{"begin":32,"end":132},"obj":"Var"},{"id":"T2","span":{"begin":134,"end":143},"obj":"PosReg"},{"id":"T3","span":{"begin":144,"end":170},"obj":"MPA"},{"id":"T4","span":{"begin":435,"end":463},"obj":"Var"},{"id":"T5","span":{"begin":474,"end":483},"obj":"PosReg"},{"id":"T6","span":{"begin":484,"end":510},"obj":"MPA"},{"id":"T8","span":{"begin":521,"end":533},"obj":"NegReg"},{"id":"T9","span":{"begin":537,"end":555},"obj":"MPA"}],"relations":[{"id":"R1","pred":"CauseOf","subj":"T1","obj":"T2"},{"id":"R2","pred":"ThemeOf","subj":"T3","obj":"T2"},{"id":"R3","pred":"CauseOf","subj":"T4","obj":"T5"},{"id":"R4","pred":"ThemeOf","subj":"T6","obj":"T5"},{"id":"R5","pred":"CauseOf","subj":"T4","obj":"T8"},{"id":"R6","pred":"ThemeOf","subj":"T9","obj":"T8"}],"attributes":[{"subj":"T1","pred":"source","obj":"AGAC-2-1"},{"subj":"T2","pred":"source","obj":"AGAC-2-1"},{"subj":"T3","pred":"source","obj":"AGAC-2-1"},{"subj":"T4","pred":"source","obj":"AGAC-2-1"},{"subj":"T5","pred":"source","obj":"AGAC-2-1"},{"subj":"T6","pred":"source","obj":"AGAC-2-1"},{"subj":"T8","pred":"source","obj":"AGAC-2-1"},{"subj":"T9","pred":"source","obj":"AGAC-2-1"}]},{"project":"AGAC-2-2","denotations":[{"id":"T1","span":{"begin":76,"end":132},"obj":"Var"},{"id":"T2","span":{"begin":134,"end":143},"obj":"PosReg"},{"id":"T3","span":{"begin":144,"end":170},"obj":"MPA"},{"id":"T4","span":{"begin":242,"end":255},"obj":"Var"},{"id":"T5","span":{"begin":439,"end":463},"obj":"Var"},{"id":"T6","span":{"begin":474,"end":483},"obj":"PosReg"},{"id":"T7","span":{"begin":484,"end":510},"obj":"MPA"},{"id":"T8","span":{"begin":529,"end":545},"obj":"NegReg"},{"id":"T9","span":{"begin":546,"end":555},"obj":"MPA"}],"relations":[{"id":"R1","pred":"CauseOf","subj":"T1","obj":"T2"},{"id":"R2","pred":"ThemeOf","subj":"T3","obj":"T2"},{"id":"R4","pred":"ThemeOf","subj":"T7","obj":"T6"},{"id":"R5","pred":"CauseOf","subj":"T5","obj":"T8"},{"id":"R6","pred":"ThemeOf","subj":"T9","obj":"T8"},{"id":"R7","pred":"CauseOf","subj":"T8","obj":"T6"}],"attributes":[{"subj":"T1","pred":"source","obj":"AGAC-2-2"},{"subj":"T2","pred":"source","obj":"AGAC-2-2"},{"subj":"T3","pred":"source","obj":"AGAC-2-2"},{"subj":"T4","pred":"source","obj":"AGAC-2-2"},{"subj":"T5","pred":"source","obj":"AGAC-2-2"},{"subj":"T6","pred":"source","obj":"AGAC-2-2"},{"subj":"T7","pred":"source","obj":"AGAC-2-2"},{"subj":"T8","pred":"source","obj":"AGAC-2-2"},{"subj":"T9","pred":"source","obj":"AGAC-2-2"}]}],"config":{"attribute types":[{"pred":"source","value type":"selection","values":[{"id":"AGAC-2-1","color":"#a2ec93","default":true},{"id":"AGAC-2-2","color":"#ec93bd"}]}]}}