Annotation Detail
Information
- Associated Genes
- PSEN1
- Associated Variants
-
PSEN1 p.Ala434Cys (p.A434C)
(
ENST00000556951.6,
ENST00000700375.1,
ENST00000553599.6,
ENST00000700312.1,
ENST00000700267.1,
ENST00000700269.1,
ENST00000357710.8,
ENST00000700324.1,
ENST00000557511.5,
ENST00000700468.1,
ENST00000700268.1,
ENST00000700437.1,
ENST00000554131.6,
ENST00000700306.1,
ENST00000557293.6,
ENST00000700313.1,
ENST00000700323.1,
ENST00000700320.1,
ENST00000700271.1,
ENST00000700378.1,
ENST00000394164.5,
ENST00000700265.1,
ENST00000700389.1,
ENST00000700469.1,
ENST00000700307.1,
ENST00000700322.1,
ENST00000324501.10,
ENST00000700317.1,
ENST00000700321.1,
ENST00000700273.1 )
PSEN1 p.Ala434Cys (p.A434C) ( ENST00000324501.10, ENST00000357710.8, ENST00000394164.5, ENST00000553599.6, ENST00000554131.6, ENST00000556951.6, ENST00000557293.6, ENST00000557511.5, ENST00000700265.1, ENST00000700267.1, ENST00000700268.1, ENST00000700269.1, ENST00000700271.1, ENST00000700273.1, ENST00000700306.1, ENST00000700307.1, ENST00000700312.1, ENST00000700313.1, ENST00000700317.1, ENST00000700320.1, ENST00000700321.1, ENST00000700322.1, ENST00000700323.1, ENST00000700324.1, ENST00000700375.1, ENST00000700378.1, ENST00000700389.1, ENST00000700437.1, ENST00000700468.1, ENST00000700469.1 )
PSEN1 p.Ala79Val (p.A79V) ( ENST00000700317.1, ENST00000324501.10, ENST00000700273.1, ENST00000700321.1, ENST00000700322.1, ENST00000700265.1, ENST00000394164.5, ENST00000700378.1, ENST00000700271.1, ENST00000700320.1, ENST00000700307.1, ENST00000700469.1, ENST00000700389.1, ENST00000700323.1, ENST00000700313.1, ENST00000557293.6, ENST00000700431.1, ENST00000700306.1, ENST00000394157.7, ENST00000700324.1, ENST00000357710.8, ENST00000700468.1, ENST00000554131.6, ENST00000700268.1, ENST00000700437.1, ENST00000557511.5, ENST00000700269.1, ENST00000700267.1, ENST00000553599.6, ENST00000700375.1, ENST00000556951.6, ENST00000700312.1 )
PSEN1 p.Val89Leu (p.V89L) ( ENST00000700320.1, ENST00000700265.1, ENST00000700378.1, ENST00000394164.5, ENST00000700271.1, ENST00000700389.1, ENST00000700307.1, ENST00000700469.1, ENST00000700313.1, ENST00000557293.6, ENST00000700323.1, ENST00000700431.1, ENST00000324501.10, ENST00000700317.1, ENST00000700273.1, ENST00000700321.1, ENST00000700322.1, ENST00000700267.1, ENST00000700269.1, ENST00000700375.1, ENST00000556951.6, ENST00000553599.6, ENST00000700312.1, ENST00000700306.1, ENST00000394157.7, ENST00000357710.8, ENST00000700324.1, ENST00000557511.5, ENST00000700268.1, ENST00000700437.1, ENST00000554131.6, ENST00000700468.1 )
PSEN1 p.Cys92Ser (p.C92S) ( ENST00000700306.1, ENST00000394157.7, ENST00000357710.8, ENST00000700324.1, ENST00000557511.5, ENST00000700268.1, ENST00000700437.1, ENST00000554131.6, ENST00000700468.1, ENST00000700267.1, ENST00000700269.1, ENST00000700375.1, ENST00000556951.6, ENST00000553599.6, ENST00000700312.1, ENST00000324501.10, ENST00000700317.1, ENST00000700321.1, ENST00000700273.1, ENST00000700322.1, ENST00000700320.1, ENST00000700378.1, ENST00000394164.5, ENST00000700271.1, ENST00000700265.1, ENST00000700389.1, ENST00000700307.1, ENST00000700469.1, ENST00000700313.1, ENST00000557293.6, ENST00000700323.1, ENST00000700431.1 )
PSEN1 p.Leu113Pro (p.L113P) ( ENST00000394157.7, ENST00000700306.1, ENST00000557511.5, ENST00000700468.1, ENST00000700268.1, ENST00000700437.1, ENST00000554131.6, ENST00000357710.8, ENST00000700324.1, ENST00000700267.1, ENST00000700269.1, ENST00000700312.1, ENST00000700375.1, ENST00000556951.6, ENST00000553599.6, ENST00000700321.1, ENST00000700273.1, ENST00000324501.10, ENST00000700317.1, ENST00000700322.1, ENST00000700389.1, ENST00000700307.1, ENST00000700469.1, ENST00000700320.1, ENST00000700378.1, ENST00000394164.5, ENST00000700271.1, ENST00000700265.1, ENST00000700431.1, ENST00000700313.1, ENST00000557293.6, ENST00000700323.1 )
PSEN1 p.Glu120Asp (p.E120D) ( ENST00000700312.1, ENST00000553599.6, ENST00000700375.1, ENST00000556951.6, ENST00000700269.1, ENST00000700267.1, ENST00000700468.1, ENST00000700268.1, ENST00000700437.1, ENST00000554131.6, ENST00000557511.5, ENST00000357710.8, ENST00000700324.1, ENST00000394157.7, ENST00000700306.1, ENST00000700431.1, ENST00000700323.1, ENST00000700313.1, ENST00000557293.6, ENST00000700307.1, ENST00000700469.1, ENST00000700389.1, ENST00000700378.1, ENST00000394164.5, ENST00000700271.1, ENST00000700265.1, ENST00000700320.1, ENST00000700322.1, ENST00000700321.1, ENST00000700273.1, ENST00000700317.1, ENST00000324501.10 )
PSEN1 p.Met139Val (p.M139V) ( ENST00000700322.1, ENST00000700317.1, ENST00000324501.10, ENST00000700321.1, ENST00000700273.1, ENST00000700323.1, ENST00000700313.1, ENST00000557293.6, ENST00000700431.1, ENST00000394164.5, ENST00000700378.1, ENST00000700271.1, ENST00000700265.1, ENST00000700320.1, ENST00000700307.1, ENST00000700469.1, ENST00000700389.1, ENST00000700324.1, ENST00000357710.8, ENST00000700468.1, ENST00000554131.6, ENST00000700268.1, ENST00000700437.1, ENST00000557511.5, ENST00000700306.1, ENST00000394157.7, ENST00000553599.6, ENST00000700375.1, ENST00000556951.6, ENST00000700312.1, ENST00000700269.1, ENST00000700267.1 )
PSEN1 p.Met146Leu (p.M146L) ( ENST00000700322.1, ENST00000700317.1, ENST00000324501.10, ENST00000700273.1, ENST00000700321.1, ENST00000700323.1, ENST00000557293.6, ENST00000700313.1, ENST00000700431.1, ENST00000700265.1, ENST00000700271.1, ENST00000394164.5, ENST00000700378.1, ENST00000700320.1, ENST00000700469.1, ENST00000700307.1, ENST00000700389.1, ENST00000700324.1, ENST00000357710.8, ENST00000554131.6, ENST00000700268.1, ENST00000700437.1, ENST00000700468.1, ENST00000557511.5, ENST00000700306.1, ENST00000394157.7, ENST00000553599.6, ENST00000556951.6, ENST00000700375.1, ENST00000700312.1, ENST00000700269.1, ENST00000700267.1 )
PSEN1 p.Met146Val (p.M146V) ( ENST00000700312.1, ENST00000553599.6, ENST00000700375.1, ENST00000556951.6, ENST00000700269.1, ENST00000700267.1, ENST00000554131.6, ENST00000700268.1, ENST00000700437.1, ENST00000700468.1, ENST00000557511.5, ENST00000700324.1, ENST00000357710.8, ENST00000394157.7, ENST00000700306.1, ENST00000700431.1, ENST00000700323.1, ENST00000700313.1, ENST00000557293.6, ENST00000700307.1, ENST00000700469.1, ENST00000700389.1, ENST00000394164.5, ENST00000700378.1, ENST00000700271.1, ENST00000700265.1, ENST00000700320.1, ENST00000700322.1, ENST00000700321.1, ENST00000700273.1, ENST00000700317.1, ENST00000324501.10 )
PSEN1 p.Met146Leu (p.M146L) ( ENST00000394157.7, ENST00000700306.1, ENST00000557511.5, ENST00000554131.6, ENST00000700268.1, ENST00000700437.1, ENST00000700468.1, ENST00000700324.1, ENST00000357710.8, ENST00000700267.1, ENST00000700269.1, ENST00000700312.1, ENST00000700375.1, ENST00000556951.6, ENST00000553599.6, ENST00000700273.1, ENST00000700321.1, ENST00000324501.10, ENST00000700317.1, ENST00000700322.1, ENST00000700389.1, ENST00000700307.1, ENST00000700469.1, ENST00000700320.1, ENST00000700265.1, ENST00000394164.5, ENST00000700378.1, ENST00000700271.1, ENST00000700431.1, ENST00000700313.1, ENST00000557293.6, ENST00000700323.1 )
PSEN1 p.Met146Ile (p.M146I) ( ENST00000700269.1, ENST00000700267.1, ENST00000700312.1, ENST00000553599.6, ENST00000556951.6, ENST00000700375.1, ENST00000394157.7, ENST00000700306.1, ENST00000700468.1, ENST00000700268.1, ENST00000700437.1, ENST00000554131.6, ENST00000557511.5, ENST00000357710.8, ENST00000700324.1, ENST00000700469.1, ENST00000700307.1, ENST00000700389.1, ENST00000700271.1, ENST00000700378.1, ENST00000394164.5, ENST00000700265.1, ENST00000700320.1, ENST00000700431.1, ENST00000700323.1, ENST00000557293.6, ENST00000700313.1, ENST00000700321.1, ENST00000700273.1, ENST00000700317.1, ENST00000324501.10, ENST00000700322.1 )
PSEN1 p.Met146Ile (p.M146I) ( ENST00000700273.1, ENST00000700321.1, ENST00000700317.1, ENST00000324501.10, ENST00000700322.1, ENST00000700469.1, ENST00000700307.1, ENST00000700389.1, ENST00000700265.1, ENST00000700271.1, ENST00000394164.5, ENST00000700378.1, ENST00000700320.1, ENST00000700431.1, ENST00000700323.1, ENST00000557293.6, ENST00000700313.1, ENST00000394157.7, ENST00000700306.1, ENST00000700468.1, ENST00000554131.6, ENST00000700268.1, ENST00000700437.1, ENST00000557511.5, ENST00000700324.1, ENST00000357710.8, ENST00000700269.1, ENST00000700267.1, ENST00000700312.1, ENST00000553599.6, ENST00000556951.6, ENST00000700375.1 )
PSEN1 p.His163Tyr (p.H163Y) ( ENST00000700269.1, ENST00000700267.1, ENST00000553599.6, ENST00000556951.6, ENST00000700375.1, ENST00000700312.1, ENST00000700306.1, ENST00000700324.1, ENST00000357710.8, ENST00000700468.1, ENST00000554131.6, ENST00000700268.1, ENST00000700437.1, ENST00000557511.5, ENST00000700265.1, ENST00000700271.1, ENST00000394164.5, ENST00000700378.1, ENST00000700320.1, ENST00000700469.1, ENST00000700307.1, ENST00000700389.1, ENST00000700323.1, ENST00000557293.6, ENST00000700313.1, ENST00000700317.1, ENST00000324501.10, ENST00000700273.1, ENST00000700321.1, ENST00000700322.1 )
PSEN1 p.His163Arg (p.H163R) ( ENST00000357710.8, ENST00000324501.10, ENST00000557511.5, ENST00000394164.5, ENST00000553599.6, ENST00000554131.6, ENST00000556951.6, ENST00000557293.6, ENST00000700265.1, ENST00000700267.1, ENST00000700268.1, ENST00000700269.1, ENST00000700271.1, ENST00000700273.1, ENST00000700306.1, ENST00000700307.1, ENST00000700312.1, ENST00000700313.1, ENST00000700317.1, ENST00000700320.1, ENST00000700321.1, ENST00000700322.1, ENST00000700323.1, ENST00000700324.1, ENST00000700375.1, ENST00000700378.1, ENST00000700389.1, ENST00000700437.1, ENST00000700468.1, ENST00000700469.1 )
PSEN1 p.Leu166Pro (p.L166P) ( ENST00000700322.1, ENST00000324501.10, ENST00000700317.1, ENST00000700273.1, ENST00000700321.1, ENST00000557293.6, ENST00000700313.1, ENST00000700323.1, ENST00000700320.1, ENST00000700265.1, ENST00000700271.1, ENST00000394164.5, ENST00000700378.1, ENST00000700389.1, ENST00000700469.1, ENST00000700307.1, ENST00000700324.1, ENST00000357710.8, ENST00000557511.5, ENST00000554131.6, ENST00000700268.1, ENST00000700437.1, ENST00000700468.1, ENST00000700306.1, ENST00000556951.6, ENST00000700375.1, ENST00000553599.6, ENST00000700312.1, ENST00000700267.1, ENST00000700269.1 )
PSEN1 p.Leu166Arg (p.L166R) ( ENST00000700313.1, ENST00000557293.6, ENST00000700323.1, ENST00000700320.1, ENST00000700265.1, ENST00000394164.5, ENST00000700378.1, ENST00000700271.1, ENST00000700389.1, ENST00000700307.1, ENST00000700469.1, ENST00000700322.1, ENST00000324501.10, ENST00000700317.1, ENST00000700273.1, ENST00000700321.1, ENST00000700375.1, ENST00000556951.6, ENST00000553599.6, ENST00000700312.1, ENST00000700267.1, ENST00000700269.1, ENST00000700324.1, ENST00000357710.8, ENST00000557511.5, ENST00000554131.6, ENST00000700268.1, ENST00000700437.1, ENST00000700468.1, ENST00000700306.1 )
PSEN1 p.Ser170Phe (p.S170F) ( ENST00000554131.6, ENST00000700268.1, ENST00000700437.1, ENST00000700468.1, ENST00000557511.5, ENST00000700324.1, ENST00000357710.8, ENST00000700306.1, ENST00000700312.1, ENST00000553599.6, ENST00000700375.1, ENST00000556951.6, ENST00000700269.1, ENST00000700267.1, ENST00000700322.1, ENST00000700273.1, ENST00000700321.1, ENST00000700317.1, ENST00000324501.10, ENST00000700323.1, ENST00000700313.1, ENST00000557293.6, ENST00000700307.1, ENST00000700469.1, ENST00000700389.1, ENST00000700265.1, ENST00000394164.5, ENST00000700378.1, ENST00000700271.1, ENST00000700320.1 )
PSEN1 p.Leu174Met (p.L174M) ( ENST00000700324.1, ENST00000357710.8, ENST00000554131.6, ENST00000700268.1, ENST00000700437.1, ENST00000700468.1, ENST00000557511.5, ENST00000700306.1, ENST00000553599.6, ENST00000700375.1, ENST00000556951.6, ENST00000700312.1, ENST00000700269.1, ENST00000700267.1, ENST00000700322.1, ENST00000700317.1, ENST00000324501.10, ENST00000700273.1, ENST00000700321.1, ENST00000700323.1, ENST00000700313.1, ENST00000557293.6, ENST00000700265.1, ENST00000394164.5, ENST00000700378.1, ENST00000700271.1, ENST00000700320.1, ENST00000700307.1, ENST00000700469.1, ENST00000700389.1 )
PSEN1 p.Gly183Val (p.G183V) ( ENST00000700320.1, ENST00000700265.1, ENST00000700271.1, ENST00000700378.1, ENST00000394164.5, ENST00000700389.1, ENST00000700469.1, ENST00000700307.1, ENST00000557293.6, ENST00000700313.1, ENST00000700323.1, ENST00000324501.10, ENST00000700317.1, ENST00000700273.1, ENST00000700321.1, ENST00000700322.1, ENST00000700267.1, ENST00000700269.1, ENST00000556951.6, ENST00000700375.1, ENST00000553599.6, ENST00000700312.1, ENST00000700306.1, ENST00000357710.8, ENST00000700324.1, ENST00000557511.5, ENST00000700468.1, ENST00000700268.1, ENST00000700437.1, ENST00000554131.6 )
PSEN1 p.Gly206Ala (p.G206A) ( ENST00000357710.8, ENST00000700324.1, ENST00000557511.5, ENST00000700468.1, ENST00000700268.1, ENST00000700437.1, ENST00000554131.6, ENST00000700306.1, ENST00000556951.6, ENST00000700375.1, ENST00000553599.6, ENST00000700312.1, ENST00000700267.1, ENST00000700269.1, ENST00000700322.1, ENST00000324501.10, ENST00000700317.1, ENST00000700273.1, ENST00000700321.1, ENST00000557293.6, ENST00000700313.1, ENST00000700323.1, ENST00000700320.1, ENST00000700265.1, ENST00000700271.1, ENST00000700378.1, ENST00000394164.5, ENST00000700389.1, ENST00000700469.1, ENST00000700307.1 )
PSEN1 p.Gly206Val (p.G206V) ( ENST00000394164.5, ENST00000324501.10, ENST00000557511.5, ENST00000357710.8, ENST00000553599.6, ENST00000554131.6, ENST00000556951.6, ENST00000557293.6, ENST00000700265.1, ENST00000700267.1, ENST00000700268.1, ENST00000700269.1, ENST00000700271.1, ENST00000700273.1, ENST00000700306.1, ENST00000700307.1, ENST00000700312.1, ENST00000700313.1, ENST00000700317.1, ENST00000700320.1, ENST00000700321.1, ENST00000700322.1, ENST00000700323.1, ENST00000700324.1, ENST00000700375.1, ENST00000700378.1, ENST00000700389.1, ENST00000700437.1, ENST00000700468.1, ENST00000700469.1 )
PSEN1 p.Met233Val (p.M233V) ( ENST00000700378.1, ENST00000700324.1, ENST00000700268.1, ENST00000700267.1, ENST00000700322.1, ENST00000700317.1, ENST00000324501.10, ENST00000700321.1, ENST00000700273.1, ENST00000700323.1, ENST00000557293.6, ENST00000700313.1, ENST00000700271.1, ENST00000394164.5, ENST00000700265.1, ENST00000700320.1, ENST00000700469.1, ENST00000700307.1, ENST00000700389.1, ENST00000357710.8, ENST00000700468.1, ENST00000700437.1, ENST00000554131.6, ENST00000557511.5, ENST00000700306.1, ENST00000553599.6, ENST00000556951.6, ENST00000700375.1, ENST00000700312.1, ENST00000700269.1 )
PSEN1 p.Met233Leu (p.M233L) ( ENST00000700306.1, ENST00000554131.6, ENST00000700268.1, ENST00000700437.1, ENST00000700468.1, ENST00000557511.5, ENST00000700324.1, ENST00000357710.8, ENST00000700269.1, ENST00000700267.1, ENST00000700312.1, ENST00000553599.6, ENST00000700375.1, ENST00000556951.6, ENST00000700321.1, ENST00000700273.1, ENST00000700317.1, ENST00000324501.10, ENST00000700322.1, ENST00000700307.1, ENST00000700469.1, ENST00000700389.1, ENST00000394164.5, ENST00000700378.1, ENST00000700271.1, ENST00000700265.1, ENST00000700320.1, ENST00000700323.1, ENST00000700313.1, ENST00000557293.6 )
PSEN1 p.Ala246Glu (p.A246E) ( ENST00000700313.1, ENST00000557293.6, ENST00000700323.1, ENST00000700320.1, ENST00000700265.1, ENST00000700378.1, ENST00000394164.5, ENST00000700271.1, ENST00000700389.1, ENST00000700307.1, ENST00000700469.1, ENST00000700322.1, ENST00000324501.10, ENST00000700317.1, ENST00000700273.1, ENST00000700321.1, ENST00000700375.1, ENST00000556951.6, ENST00000553599.6, ENST00000700312.1, ENST00000700267.1, ENST00000700269.1, ENST00000357710.8, ENST00000700324.1, ENST00000557511.5, ENST00000700468.1, ENST00000700268.1, ENST00000700437.1, ENST00000554131.6, ENST00000700306.1 )
PSEN1 p.Leu250Ser (p.L250S) ( ENST00000553599.6, ENST00000556951.6, ENST00000700375.1, ENST00000700312.1, ENST00000700269.1, ENST00000700267.1, ENST00000357710.8, ENST00000700324.1, ENST00000700468.1, ENST00000700268.1, ENST00000700437.1, ENST00000554131.6, ENST00000557511.5, ENST00000700306.1, ENST00000700323.1, ENST00000557293.6, ENST00000700313.1, ENST00000700271.1, ENST00000700378.1, ENST00000394164.5, ENST00000700265.1, ENST00000700320.1, ENST00000700469.1, ENST00000700307.1, ENST00000700389.1, ENST00000700322.1, ENST00000700317.1, ENST00000324501.10, ENST00000700321.1, ENST00000700273.1 )
PSEN1 p.Tyr256Ser (p.Y256S) ( ENST00000700324.1, ENST00000357710.8, ENST00000700468.1, ENST00000554131.6, ENST00000700268.1, ENST00000700437.1, ENST00000557511.5, ENST00000700306.1, ENST00000553599.6, ENST00000556951.6, ENST00000700375.1, ENST00000700312.1, ENST00000700269.1, ENST00000700267.1, ENST00000700322.1, ENST00000700317.1, ENST00000324501.10, ENST00000700273.1, ENST00000700321.1, ENST00000700323.1, ENST00000557293.6, ENST00000700313.1, ENST00000700265.1, ENST00000700271.1, ENST00000394164.5, ENST00000700378.1, ENST00000700320.1, ENST00000700469.1, ENST00000700307.1, ENST00000700389.1 )
PSEN1 p.Pro267Ser (p.P267S) ( ENST00000357710.8, ENST00000700324.1, ENST00000557511.5, ENST00000700468.1, ENST00000700268.1, ENST00000700437.1, ENST00000554131.6, ENST00000700306.1, ENST00000556951.6, ENST00000700375.1, ENST00000553599.6, ENST00000700312.1, ENST00000700267.1, ENST00000700269.1, ENST00000700322.1, ENST00000324501.10, ENST00000700317.1, ENST00000700321.1, ENST00000700273.1, ENST00000557293.6, ENST00000700313.1, ENST00000700323.1, ENST00000700320.1, ENST00000700271.1, ENST00000700378.1, ENST00000394164.5, ENST00000700265.1, ENST00000700389.1, ENST00000700469.1, ENST00000700307.1 )
PSEN1 p.Arg278Thr (p.R278T) ( ENST00000357710.8, ENST00000700324.1, ENST00000557511.5, ENST00000700268.1, ENST00000700437.1, ENST00000554131.6, ENST00000700468.1, ENST00000700306.1, ENST00000700375.1, ENST00000556951.6, ENST00000553599.6, ENST00000700312.1, ENST00000700267.1, ENST00000700269.1, ENST00000700322.1, ENST00000324501.10, ENST00000700317.1, ENST00000700273.1, ENST00000700321.1, ENST00000700313.1, ENST00000557293.6, ENST00000700323.1, ENST00000700320.1, ENST00000700265.1, ENST00000700378.1, ENST00000394164.5, ENST00000700271.1, ENST00000700389.1, ENST00000700307.1, ENST00000700469.1 )
PSEN1 p.Arg278Ile (p.R278I) ( ENST00000700324.1, ENST00000357710.8, ENST00000557511.5, ENST00000554131.6, ENST00000700268.1, ENST00000700437.1, ENST00000700468.1, ENST00000700306.1, ENST00000556951.6, ENST00000700375.1, ENST00000553599.6, ENST00000700312.1, ENST00000700267.1, ENST00000700269.1, ENST00000700322.1, ENST00000324501.10, ENST00000700317.1, ENST00000700321.1, ENST00000700273.1, ENST00000557293.6, ENST00000700313.1, ENST00000700323.1, ENST00000700320.1, ENST00000700271.1, ENST00000394164.5, ENST00000700378.1, ENST00000700265.1, ENST00000700389.1, ENST00000700469.1, ENST00000700307.1 )
PSEN1 p.Glu280Ala (p.E280A) ( ENST00000357710.8, ENST00000324501.10, ENST00000394164.5, ENST00000557511.5, ENST00000553599.6, ENST00000554131.6, ENST00000556951.6, ENST00000557293.6, ENST00000700265.1, ENST00000700267.1, ENST00000700268.1, ENST00000700269.1, ENST00000700271.1, ENST00000700273.1, ENST00000700306.1, ENST00000700307.1, ENST00000700312.1, ENST00000700313.1, ENST00000700317.1, ENST00000700320.1, ENST00000700321.1, ENST00000700322.1, ENST00000700323.1, ENST00000700324.1, ENST00000700375.1, ENST00000700378.1, ENST00000700389.1, ENST00000700437.1, ENST00000700468.1, ENST00000700469.1 )
PSEN1 p.Glu280Gly (p.E280G) ( ENST00000700306.1, ENST00000557511.5, ENST00000700268.1, ENST00000700437.1, ENST00000554131.6, ENST00000700468.1, ENST00000357710.8, ENST00000700324.1, ENST00000700267.1, ENST00000700269.1, ENST00000700312.1, ENST00000700375.1, ENST00000556951.6, ENST00000553599.6, ENST00000700321.1, ENST00000700273.1, ENST00000324501.10, ENST00000700317.1, ENST00000700322.1, ENST00000700389.1, ENST00000700307.1, ENST00000700469.1, ENST00000700320.1, ENST00000700378.1, ENST00000394164.5, ENST00000700271.1, ENST00000700265.1, ENST00000700313.1, ENST00000557293.6, ENST00000700323.1 )
PSEN1 p.Leu286Val (p.L286V) ( ENST00000357710.8, ENST00000557511.5, ENST00000324501.10, ENST00000394164.5, ENST00000553599.6, ENST00000554131.6, ENST00000556951.6, ENST00000557293.6, ENST00000700265.1, ENST00000700267.1, ENST00000700268.1, ENST00000700269.1, ENST00000700271.1, ENST00000700273.1, ENST00000700306.1, ENST00000700307.1, ENST00000700312.1, ENST00000700313.1, ENST00000700317.1, ENST00000700320.1, ENST00000700321.1, ENST00000700322.1, ENST00000700323.1, ENST00000700324.1, ENST00000700375.1, ENST00000700378.1, ENST00000700389.1, ENST00000700437.1, ENST00000700468.1, ENST00000700469.1 )
PSEN1 p.Leu381Val (p.L381V) ( ENST00000394164.5, ENST00000357710.8, ENST00000557511.5, ENST00000324501.10, ENST00000553599.6, ENST00000554131.6, ENST00000556951.6, ENST00000557293.6, ENST00000700265.1, ENST00000700267.1, ENST00000700268.1, ENST00000700269.1, ENST00000700271.1, ENST00000700273.1, ENST00000700306.1, ENST00000700307.1, ENST00000700312.1, ENST00000700313.1, ENST00000700317.1, ENST00000700320.1, ENST00000700321.1, ENST00000700322.1, ENST00000700323.1, ENST00000700324.1, ENST00000700375.1, ENST00000700378.1, ENST00000700389.1, ENST00000700437.1, ENST00000700468.1, ENST00000700469.1 )
PSEN1 p.Leu381Phe (p.L381F) ( ENST00000700306.1, ENST00000700324.1, ENST00000357710.8, ENST00000554131.6, ENST00000700268.1, ENST00000700437.1, ENST00000700468.1, ENST00000557511.5, ENST00000700269.1, ENST00000700267.1, ENST00000553599.6, ENST00000700375.1, ENST00000556951.6, ENST00000700312.1, ENST00000700317.1, ENST00000324501.10, ENST00000700321.1, ENST00000700273.1, ENST00000700322.1, ENST00000394164.5, ENST00000700378.1, ENST00000700271.1, ENST00000700265.1, ENST00000700320.1, ENST00000700307.1, ENST00000700469.1, ENST00000700389.1, ENST00000700323.1, ENST00000700313.1, ENST00000557293.6 )
PSEN1 p.Leu392Pro (p.L392P) ( ENST00000357710.8, ENST00000700324.1, ENST00000557511.5, ENST00000700468.1, ENST00000700268.1, ENST00000700437.1, ENST00000554131.6, ENST00000700306.1, ENST00000556951.6, ENST00000700375.1, ENST00000553599.6, ENST00000700312.1, ENST00000700267.1, ENST00000700269.1, ENST00000700322.1, ENST00000324501.10, ENST00000700317.1, ENST00000700321.1, ENST00000700273.1, ENST00000557293.6, ENST00000700313.1, ENST00000700323.1, ENST00000700320.1, ENST00000700271.1, ENST00000700378.1, ENST00000394164.5, ENST00000700265.1, ENST00000700389.1, ENST00000700469.1, ENST00000700307.1 )
PSEN1 p.Cys410Tyr (p.C410Y) ( ENST00000357710.8, ENST00000700324.1, ENST00000557511.5, ENST00000700468.1, ENST00000700268.1, ENST00000700437.1, ENST00000554131.6, ENST00000700306.1, ENST00000700375.1, ENST00000556951.6, ENST00000553599.6, ENST00000700312.1, ENST00000700267.1, ENST00000700269.1, ENST00000700322.1, ENST00000324501.10, ENST00000700317.1, ENST00000700273.1, ENST00000700321.1, ENST00000700313.1, ENST00000557293.6, ENST00000700323.1, ENST00000700320.1, ENST00000700265.1, ENST00000700378.1, ENST00000394164.5, ENST00000700271.1, ENST00000700389.1, ENST00000700307.1, ENST00000700469.1 )
PSEN1 p.Cys410Phe (p.C410F) ( ENST00000700312.1, ENST00000553599.6, ENST00000556951.6, ENST00000700375.1, ENST00000700269.1, ENST00000700267.1, ENST00000554131.6, ENST00000700268.1, ENST00000700437.1, ENST00000700468.1, ENST00000557511.5, ENST00000700324.1, ENST00000357710.8, ENST00000700306.1, ENST00000700323.1, ENST00000557293.6, ENST00000700313.1, ENST00000700469.1, ENST00000700307.1, ENST00000700389.1, ENST00000700265.1, ENST00000700271.1, ENST00000394164.5, ENST00000700378.1, ENST00000700320.1, ENST00000700322.1, ENST00000700273.1, ENST00000700321.1, ENST00000700317.1, ENST00000324501.10 )
PSEN1 p.Ala426Pro (p.A426P) ( ENST00000700307.1, ENST00000700469.1, ENST00000700389.1, ENST00000700265.1, ENST00000700378.1, ENST00000394164.5, ENST00000700271.1, ENST00000700320.1, ENST00000700323.1, ENST00000700313.1, ENST00000557293.6, ENST00000700273.1, ENST00000700321.1, ENST00000700317.1, ENST00000324501.10, ENST00000700322.1, ENST00000700269.1, ENST00000700267.1, ENST00000700312.1, ENST00000553599.6, ENST00000700375.1, ENST00000556951.6, ENST00000700306.1, ENST00000700468.1, ENST00000700268.1, ENST00000700437.1, ENST00000554131.6, ENST00000557511.5, ENST00000357710.8, ENST00000700324.1 )
PSEN1 p.Ala431Glu (p.A431E) ( ENST00000700322.1, ENST00000700273.1, ENST00000700321.1, ENST00000324501.10, ENST00000700317.1, ENST00000557293.6, ENST00000700313.1, ENST00000700323.1, ENST00000700389.1, ENST00000700469.1, ENST00000700307.1, ENST00000700320.1, ENST00000700265.1, ENST00000700271.1, ENST00000394164.5, ENST00000700378.1, ENST00000557511.5, ENST00000700468.1, ENST00000554131.6, ENST00000700268.1, ENST00000700437.1, ENST00000700324.1, ENST00000357710.8, ENST00000700306.1, ENST00000700312.1, ENST00000556951.6, ENST00000700375.1, ENST00000553599.6, ENST00000700267.1, ENST00000700269.1 )
PSEN1 p.Ala431Val (p.A431V) ( ENST00000557511.5, ENST00000394164.5, ENST00000324501.10, ENST00000357710.8, ENST00000553599.6, ENST00000554131.6, ENST00000556951.6, ENST00000557293.6, ENST00000700265.1, ENST00000700267.1, ENST00000700268.1, ENST00000700269.1, ENST00000700271.1, ENST00000700273.1, ENST00000700306.1, ENST00000700307.1, ENST00000700312.1, ENST00000700313.1, ENST00000700317.1, ENST00000700320.1, ENST00000700321.1, ENST00000700322.1, ENST00000700323.1, ENST00000700324.1, ENST00000700375.1, ENST00000700378.1, ENST00000700389.1, ENST00000700437.1, ENST00000700468.1, ENST00000700469.1 )
PSEN1 p.Pro436Gln (p.P436Q) ( ENST00000700306.1, ENST00000700268.1, ENST00000700437.1, ENST00000554131.6, ENST00000700468.1, ENST00000557511.5, ENST00000357710.8, ENST00000700324.1, ENST00000700269.1, ENST00000700267.1, ENST00000700312.1, ENST00000553599.6, ENST00000556951.6, ENST00000700375.1, ENST00000700273.1, ENST00000700321.1, ENST00000700317.1, ENST00000324501.10, ENST00000700322.1, ENST00000700469.1, ENST00000700307.1, ENST00000700389.1, ENST00000700265.1, ENST00000700271.1, ENST00000700378.1, ENST00000394164.5, ENST00000700320.1, ENST00000700323.1, ENST00000557293.6, ENST00000700313.1 )
PSEN1 p.Ala79Val (p.A79V) ( ENST00000324501.10, ENST00000357710.8, ENST00000394157.7, ENST00000394164.5, ENST00000553599.6, ENST00000554131.6, ENST00000556951.6, ENST00000557293.6, ENST00000557511.5, ENST00000700265.1, ENST00000700267.1, ENST00000700268.1, ENST00000700269.1, ENST00000700271.1, ENST00000700273.1, ENST00000700306.1, ENST00000700307.1, ENST00000700312.1, ENST00000700313.1, ENST00000700317.1, ENST00000700320.1, ENST00000700321.1, ENST00000700322.1, ENST00000700323.1, ENST00000700324.1, ENST00000700375.1, ENST00000700378.1, ENST00000700389.1, ENST00000700431.1, ENST00000700437.1, ENST00000700468.1, ENST00000700469.1 )
PSEN1 p.Val89Leu (p.V89L) ( ENST00000324501.10, ENST00000357710.8, ENST00000394157.7, ENST00000394164.5, ENST00000553599.6, ENST00000554131.6, ENST00000556951.6, ENST00000557293.6, ENST00000557511.5, ENST00000700265.1, ENST00000700267.1, ENST00000700268.1, ENST00000700269.1, ENST00000700271.1, ENST00000700273.1, ENST00000700306.1, ENST00000700307.1, ENST00000700312.1, ENST00000700313.1, ENST00000700317.1, ENST00000700320.1, ENST00000700321.1, ENST00000700322.1, ENST00000700323.1, ENST00000700324.1, ENST00000700375.1, ENST00000700378.1, ENST00000700389.1, ENST00000700431.1, ENST00000700437.1, ENST00000700468.1, ENST00000700469.1 )
PSEN1 p.Cys92Ser (p.C92S) ( ENST00000324501.10, ENST00000357710.8, ENST00000394157.7, ENST00000394164.5, ENST00000553599.6, ENST00000554131.6, ENST00000556951.6, ENST00000557293.6, ENST00000557511.5, ENST00000700265.1, ENST00000700267.1, ENST00000700268.1, ENST00000700269.1, ENST00000700271.1, ENST00000700273.1, ENST00000700306.1, ENST00000700307.1, ENST00000700312.1, ENST00000700313.1, ENST00000700317.1, ENST00000700320.1, ENST00000700321.1, ENST00000700322.1, ENST00000700323.1, ENST00000700324.1, ENST00000700375.1, ENST00000700378.1, ENST00000700389.1, ENST00000700431.1, ENST00000700437.1, ENST00000700468.1, ENST00000700469.1 )
PSEN1 p.Leu113Pro (p.L113P) ( ENST00000324501.10, ENST00000357710.8, ENST00000394157.7, ENST00000394164.5, ENST00000553599.6, ENST00000554131.6, ENST00000556951.6, ENST00000557293.6, ENST00000557511.5, ENST00000700265.1, ENST00000700267.1, ENST00000700268.1, ENST00000700269.1, ENST00000700271.1, ENST00000700273.1, ENST00000700306.1, ENST00000700307.1, ENST00000700312.1, ENST00000700313.1, ENST00000700317.1, ENST00000700320.1, ENST00000700321.1, ENST00000700322.1, ENST00000700323.1, ENST00000700324.1, ENST00000700375.1, ENST00000700378.1, ENST00000700389.1, ENST00000700431.1, ENST00000700437.1, ENST00000700468.1, ENST00000700469.1 )
PSEN1 p.Glu120Asp (p.E120D) ( ENST00000324501.10, ENST00000357710.8, ENST00000394157.7, ENST00000394164.5, ENST00000553599.6, ENST00000554131.6, ENST00000556951.6, ENST00000557293.6, ENST00000557511.5, ENST00000700265.1, ENST00000700267.1, ENST00000700268.1, ENST00000700269.1, ENST00000700271.1, ENST00000700273.1, ENST00000700306.1, ENST00000700307.1, ENST00000700312.1, ENST00000700313.1, ENST00000700317.1, ENST00000700320.1, ENST00000700321.1, ENST00000700322.1, ENST00000700323.1, ENST00000700324.1, ENST00000700375.1, ENST00000700378.1, ENST00000700389.1, ENST00000700431.1, ENST00000700437.1, ENST00000700468.1, ENST00000700469.1 )
PSEN1 p.Met139Val (p.M139V) ( ENST00000324501.10, ENST00000357710.8, ENST00000394157.7, ENST00000394164.5, ENST00000553599.6, ENST00000554131.6, ENST00000556951.6, ENST00000557293.6, ENST00000557511.5, ENST00000700265.1, ENST00000700267.1, ENST00000700268.1, ENST00000700269.1, ENST00000700271.1, ENST00000700273.1, ENST00000700306.1, ENST00000700307.1, ENST00000700312.1, ENST00000700313.1, ENST00000700317.1, ENST00000700320.1, ENST00000700321.1, ENST00000700322.1, ENST00000700323.1, ENST00000700324.1, ENST00000700375.1, ENST00000700378.1, ENST00000700389.1, ENST00000700431.1, ENST00000700437.1, ENST00000700468.1, ENST00000700469.1 )
PSEN1 p.Met146Leu (p.M146L) ( ENST00000324501.10, ENST00000357710.8, ENST00000394157.7, ENST00000394164.5, ENST00000553599.6, ENST00000554131.6, ENST00000556951.6, ENST00000557293.6, ENST00000557511.5, ENST00000700265.1, ENST00000700267.1, ENST00000700268.1, ENST00000700269.1, ENST00000700271.1, ENST00000700273.1, ENST00000700306.1, ENST00000700307.1, ENST00000700312.1, ENST00000700313.1, ENST00000700317.1, ENST00000700320.1, ENST00000700321.1, ENST00000700322.1, ENST00000700323.1, ENST00000700324.1, ENST00000700375.1, ENST00000700378.1, ENST00000700389.1, ENST00000700431.1, ENST00000700437.1, ENST00000700468.1, ENST00000700469.1 )
PSEN1 p.Met146Val (p.M146V) ( ENST00000324501.10, ENST00000357710.8, ENST00000394157.7, ENST00000394164.5, ENST00000553599.6, ENST00000554131.6, ENST00000556951.6, ENST00000557293.6, ENST00000557511.5, ENST00000700265.1, ENST00000700267.1, ENST00000700268.1, ENST00000700269.1, ENST00000700271.1, ENST00000700273.1, ENST00000700306.1, ENST00000700307.1, ENST00000700312.1, ENST00000700313.1, ENST00000700317.1, ENST00000700320.1, ENST00000700321.1, ENST00000700322.1, ENST00000700323.1, ENST00000700324.1, ENST00000700375.1, ENST00000700378.1, ENST00000700389.1, ENST00000700431.1, ENST00000700437.1, ENST00000700468.1, ENST00000700469.1 )
PSEN1 p.Met146Leu (p.M146L) ( ENST00000324501.10, ENST00000357710.8, ENST00000394157.7, ENST00000394164.5, ENST00000553599.6, ENST00000554131.6, ENST00000556951.6, ENST00000557293.6, ENST00000557511.5, ENST00000700265.1, ENST00000700267.1, ENST00000700268.1, ENST00000700269.1, ENST00000700271.1, ENST00000700273.1, ENST00000700306.1, ENST00000700307.1, ENST00000700312.1, ENST00000700313.1, ENST00000700317.1, ENST00000700320.1, ENST00000700321.1, ENST00000700322.1, ENST00000700323.1, ENST00000700324.1, ENST00000700375.1, ENST00000700378.1, ENST00000700389.1, ENST00000700431.1, ENST00000700437.1, ENST00000700468.1, ENST00000700469.1 )
PSEN1 p.Met146Ile (p.M146I) ( ENST00000324501.10, ENST00000357710.8, ENST00000394157.7, ENST00000394164.5, ENST00000553599.6, ENST00000554131.6, ENST00000556951.6, ENST00000557293.6, ENST00000557511.5, ENST00000700265.1, ENST00000700267.1, ENST00000700268.1, ENST00000700269.1, ENST00000700271.1, ENST00000700273.1, ENST00000700306.1, ENST00000700307.1, ENST00000700312.1, ENST00000700313.1, ENST00000700317.1, ENST00000700320.1, ENST00000700321.1, ENST00000700322.1, ENST00000700323.1, ENST00000700324.1, ENST00000700375.1, ENST00000700378.1, ENST00000700389.1, ENST00000700431.1, ENST00000700437.1, ENST00000700468.1, ENST00000700469.1 )
PSEN1 p.Met146Ile (p.M146I) ( ENST00000324501.10, ENST00000357710.8, ENST00000394157.7, ENST00000394164.5, ENST00000553599.6, ENST00000554131.6, ENST00000556951.6, ENST00000557293.6, ENST00000557511.5, ENST00000700265.1, ENST00000700267.1, ENST00000700268.1, ENST00000700269.1, ENST00000700271.1, ENST00000700273.1, ENST00000700306.1, ENST00000700307.1, ENST00000700312.1, ENST00000700313.1, ENST00000700317.1, ENST00000700320.1, ENST00000700321.1, ENST00000700322.1, ENST00000700323.1, ENST00000700324.1, ENST00000700375.1, ENST00000700378.1, ENST00000700389.1, ENST00000700431.1, ENST00000700437.1, ENST00000700468.1, ENST00000700469.1 )
PSEN1 p.His163Tyr (p.H163Y) ( ENST00000324501.10, ENST00000357710.8, ENST00000394164.5, ENST00000553599.6, ENST00000554131.6, ENST00000556951.6, ENST00000557293.6, ENST00000557511.5, ENST00000700265.1, ENST00000700267.1, ENST00000700268.1, ENST00000700269.1, ENST00000700271.1, ENST00000700273.1, ENST00000700306.1, ENST00000700307.1, ENST00000700312.1, ENST00000700313.1, ENST00000700317.1, ENST00000700320.1, ENST00000700321.1, ENST00000700322.1, ENST00000700323.1, ENST00000700324.1, ENST00000700375.1, ENST00000700378.1, ENST00000700389.1, ENST00000700437.1, ENST00000700468.1, ENST00000700469.1 )
PSEN1 p.His163Arg (p.H163R) ( ENST00000324501.10, ENST00000357710.8, ENST00000394164.5, ENST00000553599.6, ENST00000554131.6, ENST00000556951.6, ENST00000557293.6, ENST00000557511.5, ENST00000700265.1, ENST00000700267.1, ENST00000700268.1, ENST00000700269.1, ENST00000700271.1, ENST00000700273.1, ENST00000700306.1, ENST00000700307.1, ENST00000700312.1, ENST00000700313.1, ENST00000700317.1, ENST00000700320.1, ENST00000700321.1, ENST00000700322.1, ENST00000700323.1, ENST00000700324.1, ENST00000700375.1, ENST00000700378.1, ENST00000700389.1, ENST00000700437.1, ENST00000700468.1, ENST00000700469.1 )
PSEN1 p.Leu166Pro (p.L166P) ( ENST00000324501.10, ENST00000357710.8, ENST00000394164.5, ENST00000553599.6, ENST00000554131.6, ENST00000556951.6, ENST00000557293.6, ENST00000557511.5, ENST00000700265.1, ENST00000700267.1, ENST00000700268.1, ENST00000700269.1, ENST00000700271.1, ENST00000700273.1, ENST00000700306.1, ENST00000700307.1, ENST00000700312.1, ENST00000700313.1, ENST00000700317.1, ENST00000700320.1, ENST00000700321.1, ENST00000700322.1, ENST00000700323.1, ENST00000700324.1, ENST00000700375.1, ENST00000700378.1, ENST00000700389.1, ENST00000700437.1, ENST00000700468.1, ENST00000700469.1 )
PSEN1 p.Leu166Arg (p.L166R) ( ENST00000324501.10, ENST00000357710.8, ENST00000394164.5, ENST00000553599.6, ENST00000554131.6, ENST00000556951.6, ENST00000557293.6, ENST00000557511.5, ENST00000700265.1, ENST00000700267.1, ENST00000700268.1, ENST00000700269.1, ENST00000700271.1, ENST00000700273.1, ENST00000700306.1, ENST00000700307.1, ENST00000700312.1, ENST00000700313.1, ENST00000700317.1, ENST00000700320.1, ENST00000700321.1, ENST00000700322.1, ENST00000700323.1, ENST00000700324.1, ENST00000700375.1, ENST00000700378.1, ENST00000700389.1, ENST00000700437.1, ENST00000700468.1, ENST00000700469.1 )
PSEN1 p.Ser170Phe (p.S170F) ( ENST00000324501.10, ENST00000357710.8, ENST00000394164.5, ENST00000553599.6, ENST00000554131.6, ENST00000556951.6, ENST00000557293.6, ENST00000557511.5, ENST00000700265.1, ENST00000700267.1, ENST00000700268.1, ENST00000700269.1, ENST00000700271.1, ENST00000700273.1, ENST00000700306.1, ENST00000700307.1, ENST00000700312.1, ENST00000700313.1, ENST00000700317.1, ENST00000700320.1, ENST00000700321.1, ENST00000700322.1, ENST00000700323.1, ENST00000700324.1, ENST00000700375.1, ENST00000700378.1, ENST00000700389.1, ENST00000700437.1, ENST00000700468.1, ENST00000700469.1 )
PSEN1 p.Leu174Met (p.L174M) ( ENST00000324501.10, ENST00000357710.8, ENST00000394164.5, ENST00000553599.6, ENST00000554131.6, ENST00000556951.6, ENST00000557293.6, ENST00000557511.5, ENST00000700265.1, ENST00000700267.1, ENST00000700268.1, ENST00000700269.1, ENST00000700271.1, ENST00000700273.1, ENST00000700306.1, ENST00000700307.1, ENST00000700312.1, ENST00000700313.1, ENST00000700317.1, ENST00000700320.1, ENST00000700321.1, ENST00000700322.1, ENST00000700323.1, ENST00000700324.1, ENST00000700375.1, ENST00000700378.1, ENST00000700389.1, ENST00000700437.1, ENST00000700468.1, ENST00000700469.1 )
PSEN1 p.Gly183Val (p.G183V) ( ENST00000324501.10, ENST00000357710.8, ENST00000394164.5, ENST00000553599.6, ENST00000554131.6, ENST00000556951.6, ENST00000557293.6, ENST00000557511.5, ENST00000700265.1, ENST00000700267.1, ENST00000700268.1, ENST00000700269.1, ENST00000700271.1, ENST00000700273.1, ENST00000700306.1, ENST00000700307.1, ENST00000700312.1, ENST00000700313.1, ENST00000700317.1, ENST00000700320.1, ENST00000700321.1, ENST00000700322.1, ENST00000700323.1, ENST00000700324.1, ENST00000700375.1, ENST00000700378.1, ENST00000700389.1, ENST00000700437.1, ENST00000700468.1, ENST00000700469.1 )
PSEN1 p.Gly206Ala (p.G206A) ( ENST00000324501.10, ENST00000357710.8, ENST00000394164.5, ENST00000553599.6, ENST00000554131.6, ENST00000556951.6, ENST00000557293.6, ENST00000557511.5, ENST00000700265.1, ENST00000700267.1, ENST00000700268.1, ENST00000700269.1, ENST00000700271.1, ENST00000700273.1, ENST00000700306.1, ENST00000700307.1, ENST00000700312.1, ENST00000700313.1, ENST00000700317.1, ENST00000700320.1, ENST00000700321.1, ENST00000700322.1, ENST00000700323.1, ENST00000700324.1, ENST00000700375.1, ENST00000700378.1, ENST00000700389.1, ENST00000700437.1, ENST00000700468.1, ENST00000700469.1 )
PSEN1 p.Gly206Val (p.G206V) ( ENST00000324501.10, ENST00000357710.8, ENST00000394164.5, ENST00000553599.6, ENST00000554131.6, ENST00000556951.6, ENST00000557293.6, ENST00000557511.5, ENST00000700265.1, ENST00000700267.1, ENST00000700268.1, ENST00000700269.1, ENST00000700271.1, ENST00000700273.1, ENST00000700306.1, ENST00000700307.1, ENST00000700312.1, ENST00000700313.1, ENST00000700317.1, ENST00000700320.1, ENST00000700321.1, ENST00000700322.1, ENST00000700323.1, ENST00000700324.1, ENST00000700375.1, ENST00000700378.1, ENST00000700389.1, ENST00000700437.1, ENST00000700468.1, ENST00000700469.1 )
PSEN1 p.Met233Val (p.M233V) ( ENST00000324501.10, ENST00000357710.8, ENST00000394164.5, ENST00000553599.6, ENST00000554131.6, ENST00000556951.6, ENST00000557293.6, ENST00000557511.5, ENST00000700265.1, ENST00000700267.1, ENST00000700268.1, ENST00000700269.1, ENST00000700271.1, ENST00000700273.1, ENST00000700306.1, ENST00000700307.1, ENST00000700312.1, ENST00000700313.1, ENST00000700317.1, ENST00000700320.1, ENST00000700321.1, ENST00000700322.1, ENST00000700323.1, ENST00000700324.1, ENST00000700375.1, ENST00000700378.1, ENST00000700389.1, ENST00000700437.1, ENST00000700468.1, ENST00000700469.1 )
PSEN1 p.Met233Leu (p.M233L) ( ENST00000324501.10, ENST00000357710.8, ENST00000394164.5, ENST00000553599.6, ENST00000554131.6, ENST00000556951.6, ENST00000557293.6, ENST00000557511.5, ENST00000700265.1, ENST00000700267.1, ENST00000700268.1, ENST00000700269.1, ENST00000700271.1, ENST00000700273.1, ENST00000700306.1, ENST00000700307.1, ENST00000700312.1, ENST00000700313.1, ENST00000700317.1, ENST00000700320.1, ENST00000700321.1, ENST00000700322.1, ENST00000700323.1, ENST00000700324.1, ENST00000700375.1, ENST00000700378.1, ENST00000700389.1, ENST00000700437.1, ENST00000700468.1, ENST00000700469.1 )
PSEN1 p.Ala246Glu (p.A246E) ( ENST00000324501.10, ENST00000357710.8, ENST00000394164.5, ENST00000553599.6, ENST00000554131.6, ENST00000556951.6, ENST00000557293.6, ENST00000557511.5, ENST00000700265.1, ENST00000700267.1, ENST00000700268.1, ENST00000700269.1, ENST00000700271.1, ENST00000700273.1, ENST00000700306.1, ENST00000700307.1, ENST00000700312.1, ENST00000700313.1, ENST00000700317.1, ENST00000700320.1, ENST00000700321.1, ENST00000700322.1, ENST00000700323.1, ENST00000700324.1, ENST00000700375.1, ENST00000700378.1, ENST00000700389.1, ENST00000700437.1, ENST00000700468.1, ENST00000700469.1 )
PSEN1 p.Leu250Ser (p.L250S) ( ENST00000324501.10, ENST00000357710.8, ENST00000394164.5, ENST00000553599.6, ENST00000554131.6, ENST00000556951.6, ENST00000557293.6, ENST00000557511.5, ENST00000700265.1, ENST00000700267.1, ENST00000700268.1, ENST00000700269.1, ENST00000700271.1, ENST00000700273.1, ENST00000700306.1, ENST00000700307.1, ENST00000700312.1, ENST00000700313.1, ENST00000700317.1, ENST00000700320.1, ENST00000700321.1, ENST00000700322.1, ENST00000700323.1, ENST00000700324.1, ENST00000700375.1, ENST00000700378.1, ENST00000700389.1, ENST00000700437.1, ENST00000700468.1, ENST00000700469.1 )
PSEN1 p.Tyr256Ser (p.Y256S) ( ENST00000324501.10, ENST00000357710.8, ENST00000394164.5, ENST00000553599.6, ENST00000554131.6, ENST00000556951.6, ENST00000557293.6, ENST00000557511.5, ENST00000700265.1, ENST00000700267.1, ENST00000700268.1, ENST00000700269.1, ENST00000700271.1, ENST00000700273.1, ENST00000700306.1, ENST00000700307.1, ENST00000700312.1, ENST00000700313.1, ENST00000700317.1, ENST00000700320.1, ENST00000700321.1, ENST00000700322.1, ENST00000700323.1, ENST00000700324.1, ENST00000700375.1, ENST00000700378.1, ENST00000700389.1, ENST00000700437.1, ENST00000700468.1, ENST00000700469.1 )
PSEN1 p.Pro267Ser (p.P267S) ( ENST00000324501.10, ENST00000357710.8, ENST00000394164.5, ENST00000553599.6, ENST00000554131.6, ENST00000556951.6, ENST00000557293.6, ENST00000557511.5, ENST00000700265.1, ENST00000700267.1, ENST00000700268.1, ENST00000700269.1, ENST00000700271.1, ENST00000700273.1, ENST00000700306.1, ENST00000700307.1, ENST00000700312.1, ENST00000700313.1, ENST00000700317.1, ENST00000700320.1, ENST00000700321.1, ENST00000700322.1, ENST00000700323.1, ENST00000700324.1, ENST00000700375.1, ENST00000700378.1, ENST00000700389.1, ENST00000700437.1, ENST00000700468.1, ENST00000700469.1 )
PSEN1 p.Arg278Thr (p.R278T) ( ENST00000324501.10, ENST00000357710.8, ENST00000394164.5, ENST00000553599.6, ENST00000554131.6, ENST00000556951.6, ENST00000557293.6, ENST00000557511.5, ENST00000700265.1, ENST00000700267.1, ENST00000700268.1, ENST00000700269.1, ENST00000700271.1, ENST00000700273.1, ENST00000700306.1, ENST00000700307.1, ENST00000700312.1, ENST00000700313.1, ENST00000700317.1, ENST00000700320.1, ENST00000700321.1, ENST00000700322.1, ENST00000700323.1, ENST00000700324.1, ENST00000700375.1, ENST00000700378.1, ENST00000700389.1, ENST00000700437.1, ENST00000700468.1, ENST00000700469.1 )
PSEN1 p.Arg278Ile (p.R278I) ( ENST00000324501.10, ENST00000357710.8, ENST00000394164.5, ENST00000553599.6, ENST00000554131.6, ENST00000556951.6, ENST00000557293.6, ENST00000557511.5, ENST00000700265.1, ENST00000700267.1, ENST00000700268.1, ENST00000700269.1, ENST00000700271.1, ENST00000700273.1, ENST00000700306.1, ENST00000700307.1, ENST00000700312.1, ENST00000700313.1, ENST00000700317.1, ENST00000700320.1, ENST00000700321.1, ENST00000700322.1, ENST00000700323.1, ENST00000700324.1, ENST00000700375.1, ENST00000700378.1, ENST00000700389.1, ENST00000700437.1, ENST00000700468.1, ENST00000700469.1 )
PSEN1 p.Glu280Ala (p.E280A) ( ENST00000324501.10, ENST00000357710.8, ENST00000394164.5, ENST00000553599.6, ENST00000554131.6, ENST00000556951.6, ENST00000557293.6, ENST00000557511.5, ENST00000700265.1, ENST00000700267.1, ENST00000700268.1, ENST00000700269.1, ENST00000700271.1, ENST00000700273.1, ENST00000700306.1, ENST00000700307.1, ENST00000700312.1, ENST00000700313.1, ENST00000700317.1, ENST00000700320.1, ENST00000700321.1, ENST00000700322.1, ENST00000700323.1, ENST00000700324.1, ENST00000700375.1, ENST00000700378.1, ENST00000700389.1, ENST00000700437.1, ENST00000700468.1, ENST00000700469.1 )
PSEN1 p.Glu280Gly (p.E280G) ( ENST00000324501.10, ENST00000357710.8, ENST00000394164.5, ENST00000553599.6, ENST00000554131.6, ENST00000556951.6, ENST00000557293.6, ENST00000557511.5, ENST00000700265.1, ENST00000700267.1, ENST00000700268.1, ENST00000700269.1, ENST00000700271.1, ENST00000700273.1, ENST00000700306.1, ENST00000700307.1, ENST00000700312.1, ENST00000700313.1, ENST00000700317.1, ENST00000700320.1, ENST00000700321.1, ENST00000700322.1, ENST00000700323.1, ENST00000700324.1, ENST00000700375.1, ENST00000700378.1, ENST00000700389.1, ENST00000700437.1, ENST00000700468.1, ENST00000700469.1 )
PSEN1 p.Leu286Val (p.L286V) ( ENST00000324501.10, ENST00000357710.8, ENST00000394164.5, ENST00000553599.6, ENST00000554131.6, ENST00000556951.6, ENST00000557293.6, ENST00000557511.5, ENST00000700265.1, ENST00000700267.1, ENST00000700268.1, ENST00000700269.1, ENST00000700271.1, ENST00000700273.1, ENST00000700306.1, ENST00000700307.1, ENST00000700312.1, ENST00000700313.1, ENST00000700317.1, ENST00000700320.1, ENST00000700321.1, ENST00000700322.1, ENST00000700323.1, ENST00000700324.1, ENST00000700375.1, ENST00000700378.1, ENST00000700389.1, ENST00000700437.1, ENST00000700468.1, ENST00000700469.1 )
PSEN1 p.Leu381Val (p.L381V) ( ENST00000324501.10, ENST00000394164.5, ENST00000557511.5, ENST00000357710.8, ENST00000553599.6, ENST00000554131.6, ENST00000556951.6, ENST00000557293.6, ENST00000700265.1, ENST00000700267.1, ENST00000700268.1, ENST00000700269.1, ENST00000700271.1, ENST00000700273.1, ENST00000700306.1, ENST00000700307.1, ENST00000700312.1, ENST00000700313.1, ENST00000700317.1, ENST00000700320.1, ENST00000700321.1, ENST00000700322.1, ENST00000700323.1, ENST00000700324.1, ENST00000700375.1, ENST00000700378.1, ENST00000700389.1, ENST00000700437.1, ENST00000700468.1, ENST00000700469.1 )
PSEN1 p.Leu381Phe (p.L381F) ( ENST00000324501.10, ENST00000357710.8, ENST00000394164.5, ENST00000553599.6, ENST00000554131.6, ENST00000556951.6, ENST00000557293.6, ENST00000557511.5, ENST00000700265.1, ENST00000700267.1, ENST00000700268.1, ENST00000700269.1, ENST00000700271.1, ENST00000700273.1, ENST00000700306.1, ENST00000700307.1, ENST00000700312.1, ENST00000700313.1, ENST00000700317.1, ENST00000700320.1, ENST00000700321.1, ENST00000700322.1, ENST00000700323.1, ENST00000700324.1, ENST00000700375.1, ENST00000700378.1, ENST00000700389.1, ENST00000700437.1, ENST00000700468.1, ENST00000700469.1 )
PSEN1 p.Leu392Pro (p.L392P) ( ENST00000324501.10, ENST00000357710.8, ENST00000394164.5, ENST00000553599.6, ENST00000554131.6, ENST00000556951.6, ENST00000557293.6, ENST00000557511.5, ENST00000700265.1, ENST00000700267.1, ENST00000700268.1, ENST00000700269.1, ENST00000700271.1, ENST00000700273.1, ENST00000700306.1, ENST00000700307.1, ENST00000700312.1, ENST00000700313.1, ENST00000700317.1, ENST00000700320.1, ENST00000700321.1, ENST00000700322.1, ENST00000700323.1, ENST00000700324.1, ENST00000700375.1, ENST00000700378.1, ENST00000700389.1, ENST00000700437.1, ENST00000700468.1, ENST00000700469.1 )
PSEN1 p.Cys410Tyr (p.C410Y) ( ENST00000324501.10, ENST00000357710.8, ENST00000394164.5, ENST00000553599.6, ENST00000554131.6, ENST00000556951.6, ENST00000557293.6, ENST00000557511.5, ENST00000700265.1, ENST00000700267.1, ENST00000700268.1, ENST00000700269.1, ENST00000700271.1, ENST00000700273.1, ENST00000700306.1, ENST00000700307.1, ENST00000700312.1, ENST00000700313.1, ENST00000700317.1, ENST00000700320.1, ENST00000700321.1, ENST00000700322.1, ENST00000700323.1, ENST00000700324.1, ENST00000700375.1, ENST00000700378.1, ENST00000700389.1, ENST00000700437.1, ENST00000700468.1, ENST00000700469.1 )
PSEN1 p.Cys410Phe (p.C410F) ( ENST00000324501.10, ENST00000357710.8, ENST00000394164.5, ENST00000553599.6, ENST00000554131.6, ENST00000556951.6, ENST00000557293.6, ENST00000557511.5, ENST00000700265.1, ENST00000700267.1, ENST00000700268.1, ENST00000700269.1, ENST00000700271.1, ENST00000700273.1, ENST00000700306.1, ENST00000700307.1, ENST00000700312.1, ENST00000700313.1, ENST00000700317.1, ENST00000700320.1, ENST00000700321.1, ENST00000700322.1, ENST00000700323.1, ENST00000700324.1, ENST00000700375.1, ENST00000700378.1, ENST00000700389.1, ENST00000700437.1, ENST00000700468.1, ENST00000700469.1 )
PSEN1 p.Ala426Pro (p.A426P) ( ENST00000324501.10, ENST00000357710.8, ENST00000394164.5, ENST00000553599.6, ENST00000554131.6, ENST00000556951.6, ENST00000557293.6, ENST00000557511.5, ENST00000700265.1, ENST00000700267.1, ENST00000700268.1, ENST00000700269.1, ENST00000700271.1, ENST00000700273.1, ENST00000700306.1, ENST00000700307.1, ENST00000700312.1, ENST00000700313.1, ENST00000700317.1, ENST00000700320.1, ENST00000700321.1, ENST00000700322.1, ENST00000700323.1, ENST00000700324.1, ENST00000700375.1, ENST00000700378.1, ENST00000700389.1, ENST00000700437.1, ENST00000700468.1, ENST00000700469.1 )
PSEN1 p.Ala431Glu (p.A431E) ( ENST00000324501.10, ENST00000357710.8, ENST00000394164.5, ENST00000553599.6, ENST00000554131.6, ENST00000556951.6, ENST00000557293.6, ENST00000557511.5, ENST00000700265.1, ENST00000700267.1, ENST00000700268.1, ENST00000700269.1, ENST00000700271.1, ENST00000700273.1, ENST00000700306.1, ENST00000700307.1, ENST00000700312.1, ENST00000700313.1, ENST00000700317.1, ENST00000700320.1, ENST00000700321.1, ENST00000700322.1, ENST00000700323.1, ENST00000700324.1, ENST00000700375.1, ENST00000700378.1, ENST00000700389.1, ENST00000700437.1, ENST00000700468.1, ENST00000700469.1 )
PSEN1 p.Ala431Val (p.A431V) ( ENST00000324501.10, ENST00000357710.8, ENST00000394164.5, ENST00000553599.6, ENST00000554131.6, ENST00000556951.6, ENST00000557293.6, ENST00000557511.5, ENST00000700265.1, ENST00000700267.1, ENST00000700268.1, ENST00000700269.1, ENST00000700271.1, ENST00000700273.1, ENST00000700306.1, ENST00000700307.1, ENST00000700312.1, ENST00000700313.1, ENST00000700317.1, ENST00000700320.1, ENST00000700321.1, ENST00000700322.1, ENST00000700323.1, ENST00000700324.1, ENST00000700375.1, ENST00000700378.1, ENST00000700389.1, ENST00000700437.1, ENST00000700468.1, ENST00000700469.1 )
PSEN1 p.Pro436Gln (p.P436Q) ( ENST00000324501.10, ENST00000357710.8, ENST00000394164.5, ENST00000553599.6, ENST00000554131.6, ENST00000556951.6, ENST00000557293.6, ENST00000557511.5, ENST00000700265.1, ENST00000700267.1, ENST00000700268.1, ENST00000700269.1, ENST00000700271.1, ENST00000700273.1, ENST00000700306.1, ENST00000700307.1, ENST00000700312.1, ENST00000700313.1, ENST00000700317.1, ENST00000700320.1, ENST00000700321.1, ENST00000700322.1, ENST00000700323.1, ENST00000700324.1, ENST00000700375.1, ENST00000700378.1, ENST00000700389.1, ENST00000700437.1, ENST00000700468.1, ENST00000700469.1 ) - Associated Disease
- Alzheimer disease, familial, type 3
- Source Database
- DisGeNET
- Description
- NA
- Original source reporting the Gene Disease association
- CLINVAR
- DisGENET score for the Gene Disease association
- 0.32027144187208
- Year of publication
- NA
Drugs