MUTATIONS MAPT 44087694 GRCh37/hg19 rs63750688 AAG--- ΔK280 Exon 10 Deletion Coding The K280del variant is unusal in that it inhibits exon 10 inclusion and leads to an excess of 3-repeat (3R) tau transcripts. It also has been shown to reduce tau's ability to p
PAPER McRae CA, Diem G, Yamazaki TG, Mitek A, Wszolek ZK
Eur J Neurol. 2001 Mar;8(2):179-83. PubMed: 11284997
PAPER Wszolek ZK, Lagerlund TD, Steg RE, McManis PG
Electroencephalogr Clin Neurophysiol. 1998 Sep;107(3):213-22. PubMed: 9803952
PAPER Wszolek ZK, Pfeiffer RF, Bhatt MH, Schelper RL, Cordes M, Snow BJ, Rodnitzky RL, Wolters EC, Arwert F, Calne DB
Ann Neurol. 1992 Sep;32(3):312-20. PubMed: 1416801
PAPER Kawai J, Sasahara M, Hazama F, Kuno S, Komure O, Nomura S, Yamaguchi M
Acta Neuropathol. 1993;86(6):609-16. PubMed: 8310816
PAPER Wijker M, Wszolek ZK, Wolters EC, Rooimans MA, Pals G, Pfeiffer RF, Lynch T, Rodnitzky RL, Wilhelmsen KC, Arwert F
Hum Mol Genet. 1996 Jan;5(1):151-4. PubMed: 8789453
MUTATIONS MAPT 44087690 GRCh37/hg19 rs63750756 T G Exon 10 Point, Missense Coding Affects splicing similar to many of the intronic mutations, resulting in more frequent inclusion of exon 10 in mRNA transcripts. Also, reduces lysosomal degradation of tau in iPSC-der
MUTATIONS MAPT 44087666 GRCh37/hg19 rs63749974 G T g.123701G> T g.120880G> T IVS9-10 G> T Intron 9 Point Non-Coding This intronic mutation stregthens the splice acceptor site, resulting in more frequent inclusion of exon 10 into mRNA transcripts. Four-repe
PAPER Malkani R, D'Souza I, Gwinn-Hardy K, Schellenberg GD, Hardy J, Momeni P
Neurobiol Dis. 2006 May;22(2):401-3. Epub 2006 Feb 28 PubMed: 16503405
MUTATIONS MAPT 44074025 GRCh37/hg19 G A g.110065G> A g.107239G> A Exon 9 Point, Missense Coding Unknown. Unknown. G273R Frontotemporal Dementia: PathogenicFrontotemporal Dementia This mutation was identified in one out of 98 Belgian individuals dignosed with
MUTATIONS MAPT 44074023 GRCh37/hg19 rs63750376 G T g.110063G> T g.107237G> T Exon 9 Point, Missense Coding Mutant tau proteins are more favorable substrates for phosphorylation than wild-type tau. Severe frontotemporal lobe atrophy; Neuronal loss in hippocamp