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329963 RESULTS

MAPT I260V

MUTATIONS MAPT 44073986 GRCh37/hg19 rs63751249 A G g.110026A> G g.107200A> G I595V Exon 9 Point, Missense Coding Selective increase in tau aggregation (four-repeat isoforms only); No disruption of exon 10 splicing. Extensive tau pathology, but no neurofibrill

MAPT K257T

MUTATIONS MAPT 44073978 GRCh37/hg19 rs63750129 A C g.110018A> C g.107192A> C Exon 9 Point, Missense Coding Impairs its own lysosomal degradation; reduces ability to promote microtubule assembly. Frontotemporal atrophy, especially in the temporal lobes. Numero

PSEN1 R269H

MUTATIONS PSEN1 73664775 GRCh37/hg19 rs63750900 G A g.49991G> A g.66597G> A Exon 8 Point, Missense Coding Decreased the Aβ (37 + 38 + 40) / (42 + 43) ratio in cells; decreased γ-secretase activity (53% of wildtype). Neuropathology consistent with Alzheimer�

PSEN1 R269G

MUTATIONS PSEN1 73664774 GRCh37/hg19 rs63751019 C G g.49990C> G g.66596C> G Exon 8 Point, Missense Coding Decreased Aβ40 and Aβ42 production; increased Aβ42/Aβ40 ratio.  Unknown, but in one patient, MRI showed mild, non-specific cortical atrophy and EEG revea

MAPT D285D

MUTATIONS MAPT 44061025 GRCh37/hg19 rs63750222 C T g.97065C> T g.94239C> T Exon 4a Point, Silent Coding Unknown. Not applicable. D285D Frontotemporal Dementia: BenignNone This variant in exon 4a may be relatively common. It was detected in 15 percent of 92 co

PSEN1 P267L

MUTATIONS PSEN1 73664769 GRCh37/hg19 rs63750779 C T g.49985C> T g.66591C> T Exon 8 Point, Missense Coding Unknown, but predicted damaging by multiple in silico algorithms. Unknown. P267L Alzheimer's Disease: Not ClassifiedAlzheimer's Disease This mu

PSEN1 P267S

MUTATIONS PSEN1 73664768 GRCh37/hg19 rs63751229 C T g.49984C> T g.66590C> T Exon 8 Point, Missense Coding Reduced γ-secretase activity; Increased cell cycle arrest. Neuropathology consistent with Alzheimer's disease. P267S Alzheimer's Disease: Patho

PSEN1 G266S

MUTATIONS PSEN1 73664765 GRCh37/hg19 rs121917807 G A g.49981G> A g.66587G> A Exon 8 Point, Missense Coding Marked increase in Aβ42/Aβ40 ratio; reduced production of Aβ42, and particularly Aβ40, in vitro.  In one case, cotton-wool plaques; cerebral amyloid ang

PSEN1 P264L

MUTATIONS PSEN1 73664760 GRCh37/hg19 rs63750301 C T g.49976C> T g.66582C> T Exon 8 Point, Missense Coding Increased Aβ42/Aβ40 and decreased Aβ38/Aβ42 ratios; increased Aβ42, and decreased Aβ40 and Aβ38 production; Deposition of PSEN-1 in the endoplasmic retic

PSEN1 C263F

MUTATIONS PSEN1 73664757 GRCh37/hg19 rs63751102 G T g.49973G> T g.66579G> T Exon 8 Point, Missense Coding Increased Aβ43 and the Aβ42/Aβ40 ratio; decreased Aβ38, Aβ40, and Aβ42. Unknown. AD-like CSF levels of Aβ40, Aβ42, Aβ43, tau, and phospho-tau in 3 of 4 c

MAPT D285N

MUTATIONS MAPT 44061023 GRCh37/hg19 rs62063786 G A g.97063G> A g.94237G> A Exon 4a Point, Missense Coding Unknown. Unknown. D285N Frontotemporal Dementia: Benign, Other Tauopathy: Incomplete PenetranceProgressive Supranuclear Palsy, None This variant was firs

PSEN1 C263R

MUTATIONS PSEN1 73664756 GRCh37/hg19 rs63750543 T C g.49972T> C g.66578T> C Exon 8 Point, Missense Coding Decreased Aβ40 and Aβ42 production and increased Aβ42/Aβ40 ratio in vitro. Neuropathology consistent with AD. C263R Alzheimer's Disease: PathogenicA

PSEN1 L262F

MUTATIONS PSEN1 73664755 GRCh37/hg19 rs63750248 G C g.49971G> C g.66577G> C Exon 8 Point, Missense Coding Increased Aβ42/Aβ40 ratio in vitro, exhibiting a moderate increase in Aβ42 production, and a decrease in Aβ40 production. A brain biopsy from one case &q

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