331254 RESULTS
MUTATIONS PSEN2 227071475 GRCh37/hg19 rs140501902 C T g.1855C> T g.18203C> T Exon 5 Point, Missense Coding Unchanged Aβ42/Aβ40 ratio; Reduces the stability of the presenilin-2 protein and impairs Notch signaling. Leukoencephalopathy with periventricular white
MUTATIONS MAPT 44087797 GRCh37/hg19 rs63751443 G A g.123832G> A g.121011G> A IVS10+29 G> A Intron 10 Point Non-Coding IVS10 + 29 G>A does not appear to alter the splicing of exon 10. Not applicable. IVS10+29 G>A Frontotemporal Dementia: BenignNone Th
MUTATIONS MAPT 44087793 GRCh37/hg19 rs63750117 C T g.123828C> T g.121007C> T IVS10+25 C> T Intron 10 Point Non-Coding Unknown. Not applicable. IVS10+25 C>T Frontotemporal Dementia: Benign, Alzheimer's Disease: BenignNone This variant was identified
MUTATIONS MAPT 44087787 GRCh37/hg19 rs63750162 C G g.123822C> G g.121001C> G IVS10+19 C> G Intron 10 Point Non-Coding Alters the splicing of exon 10, resulting in increased 3-repeat (3R) tau isoforms. Elevated 3R tau was shown to decrease microtubule assem
MUTATIONS MAPT 44087784 GRCh37/hg19 rs63751011 C T g.123819C> T g.120998C> T IVS10+16 C> T Intron 10 Point Non-Coding Destabilizes a stem-loop structure that regulates the alternative splicing of exon 10, resulting in more frequent inclusion of exon 10 and
MUTATIONS MAPT 44087782 GRCh37/hg19 rs63750972 C T g.123817C> T g.120996C> T IVS10+14 C> T Intron 10 Point Non-Coding Destabilizes a stem-loop structure that regulates alternative splicing of exon 10, causing more frequent inclusion of exon 10 and leading
MUTATIONS PSEN2 227071449 GRCh37/hg19 rs58973334 G A g.1839G> A g.18177G> A Exon 5 Point, Missense Coding In two carriers, CSF Aβ peptide levels were variable. In cells, unchanged Aβ42/Aβ40 ratio; unchanged Aβ42; No change in proteolytic products PSEN2-CTF an
MUTATIONS PSEN1 73685910_73685912 GRCh37/hg19 rs63750470 ACC--- g.71122_71124delACC g.87733_87735delACC Exon 12 Deletion Coding Abrogation of Aβ40 production and dramatic reduction of Aβ42 production in vitro. Near abrogation of autoproteolysis. Cotton-wool plaques
MUTATIONS PSEN1 73685909 GRCh37/hg19 T G g.71120T> G g.87731T> G Exon 12 Point, Missense Coding Unknown, but PolyPhen analysis predicted the mutation is possibly damaging. Unknown, but MRI showed diffuse cortical atrophy in one case. I439S Alzheimer's Di
MUTATIONS PSEN1 73685908 GRCh37/hg19 rs63750249 A G g.71119A> G g.87730A> G Exon 12 Point, Missense Coding In vitro, moderately increased Aβ40 and Aβ42 production; Aβ42/Aβ40 ratio unchanged. In cells, increased Aβ42 secretion; Aβ42/Aβ40 unchanged. Unknown.
MUTATIONS PSEN1 73685900 GRCh37/hg19 rs121917808 C A g.71111C> A g.87722C> A Exon 12 Point, Missense Coding Unknown, but multiple in silico algorithms predicted it is damaging. Neuropathology consistent with AD in at least one mutation carrier, including freq
MUTATIONS PSEN1 73685899 GRCh37/hg19 rs63749925 C T g.71110C> T g.87721C> T Exon 12 Point, Missense Coding Increased Aβ42/Aβ40 ratio in cells and in vitro. In cells, decreased production of Aβ40, Aβ42, AICD, Notch. In vitro, decreased Aβ40, with no effect on
MUTATIONS PSEN1 73685896 GRCh37/hg19 rs63750001 C T g.71107C> T g.87718C> T Exon 12 Point, Missense Coding Elevated Aβ43 in cells, inluding iPSC-derived neurons, knockin rats, and human brain tissue (although decreased Aβ43 in knockin mice). Decreased total A
MUTATIONS MAPT 44087781 GRCh37/hg19 rs63750308 A G g.123816A> G g.120995A> G IVS10+13 A> G Intron 10 Point Non-Coding Destabilizes a stem-loop structure that regulates the alternative splicing of exon 10, resulting in more frequent inclusion of exon 10 and
PAPER Walter U, Witt R, Wolters A, Wittstock M, Benecke R
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