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330026 RESULTS

PSEN1 N405S

MUTATIONS PSEN1 73683918 GRCh37/hg19 rs63751254 A G g.69128A> G g.85740A> G Exon 11 Point, Missense Coding Decreased Aβ40 and Aβ42 production, and decreased Aβ42/Aβ40 ratio in vitro. Neuropathology consistent with AD. N405S Alzheimer's Disease: Not Class

PSEN1 G394V

MUTATIONS PSEN1 73683885 GRCh37/hg19 rs63750929 G T g.69095G> T g.85707G> T Exon 11 Point, Missense Coding In vitro, Aβ40 production undetectable; Aβ42 drastically reduced; autoproteolysis abrogated. Four algorithms predicted the mutation to be damaging, with

PSEN1 L392P

MUTATIONS PSEN1 73683879 GRCh37/hg19 rs63750218 T C g.69089T> C g.85701T> C Exon 11 Point, Missense Coding Unknown Unknown L392P Alzheimer's Disease: Not ClassifiedAlzheimer's Disease This mutation was found in an Italian man with a family history o

PSEN1 L392V

MUTATIONS PSEN1 73683878 GRCh37/hg19 rs63751416 C G g.69088C> G g.85700C> G Exon 11 Point, Missense Coding Increased Aβ42:Aβ40 ratio; increased Aβ48-39 production line, including Aβ42, in cells; decreased Aβ40 production in vitro. Impaired Notch cleavage.  Ne

PSEN1 V391F

MUTATIONS PSEN1 73683875 GRCh37/hg19 rs63751066 G T g.69085G> T g.85697G> T Exon 11 Point, Missense Coding Increased Aβ42/Aβ40 ratio; reduced Aβ40 production in vitro. Unknown V391F Alzheimer's Disease: PathogenicAlzheimer's Disease This mutation wa

PSEN1 S390I

MUTATIONS PSEN1 73683873 GRCh37/hg19 rs63750883 G T g.69083G> T g.85695G> T Exon 11 Point, Missense Coding Drastic decrease in production of both Aβ40 and Aβ42 in vitro. Unknown S390I Alzheimer's Disease: Not ClassifiedAlzheimer's Disease This varia

PSEN1 F386S

MUTATIONS PSEN1 73683861 GRCh37/hg19 rs63749860 T C g.69071T> C g.85683T> C Exon 11 Point, Missense Coding Decreased Aβ37/Aβ42 ratio and dramatically increased Aβ43 in cells. Increased Aβ42/Aβ40 ratio in 3 assays. Unknown F386S Alzheimer's Disease: Patho

PSEN1 G384A

MUTATIONS PSEN1 73683855 GRCh37/hg19 rs63750646 G C g.69065G> C g.85677G> C Exon 11 Point, Missense Coding Increased Aβ42/Aβ40 ratio; increased relative amounts of longer vs. shorter Aβ peptides; decreased Aβ40, Aβ38, Aβ38/Aβ42, and Aβ40/Aβ43. Abolished ER ca

MAPT V337M

MUTATIONS MAPT 44095995 GRCh37/hg19 rs63750570 G A g.132039G> A g.129219G> A Seattle Exon 12 Point, Missense Coding Accelerates aggregation of tau into filaments. The mutant protein also makes a more favorable substrate for phosphorylation than wild-type 4-re

PSEN1 G378V

MUTATIONS PSEN1 73683837 GRCh37/hg19 rs63750323 G T g.69047G> T g.85659G> T Exon 11 Point, Missense Coding Decreased Aβ42 and abrogation of Aβ40 production in vitro. Predicted to have a damaging effect by SIFT, Polyphen, and Mutation Taster. Neuropathology co

PSEN1 G378E

MUTATIONS PSEN1 73683837 GRCh37/hg19 rs63750323 G A g.69047G> A g.85659G> A Exon 11 Point, Missense Coding Increased Aβ42/Aβ40 ratio; increased Aβ42. Neuropathology consistent with AD. One case also had notable cerebral amyloid angiopathy. G378E Alzheimer

PSEN1 R377M

MUTATIONS PSEN1 73683834 GRCh37/hg19 rs63751051 G T g.69044G> T g.85656G> T Exon 11 Point, Missense Coding Unknown, but in silico algorithm predicted it is deleterious (PHRED-scaled CADD = 32). Unknown R377M Alzheimer's Disease: Likely PathogenicAlzheime

PSEN1 D333G

MUTATIONS PSEN1 73678519 GRCh37/hg19 rs121917809 A G g.63729A> G g.80341A> G Exon 10 Point, Missense Coding Aβ42 production slightly reduced in vitro. Altered calcium signaling in fibroblasts. Unknown D333G Alzheimer's Disease: Benign, Dilated Cardiomyop

PSEN1 S365Y

MUTATIONS PSEN1 73678615 GRCh37/hg19 rs63750941 C A g.63825C> A g.80437C> A Exon 10 Point, Missense Coding Unknown. In silico algorithms yielded conflicting results, with integrative CADD score (>20) suggesting damaging effects. Unknown. S365Y Alzheimer�

PSEN1 S365A

MUTATIONS PSEN1 73678614 GRCh37/hg19 T G g.63824T> G g.80436T> G Exon10 Point, Missense Coding In vitro production of Aβ38, Aβ40, Aβ42, and Aβ43 similar to wildtype in one study; in another Aβ40 and Aβ42 production moderately increased, with Aβ42/Aβ40 ratio u

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