MUTATIONS MAPT 44087739 GRCh37/hg19 rs63750416 A C Exon 10 Point, Missense Coding This mutation increases the inclusion of exon 10 in tau mRNA and therefore increases the ratio of 4R/3R tau. It reduces tau's ability to promote tubulin polymerization and microt
PAPER Wang IM, Zhang B, Yang X, Zhu J, Stepaniants S, Zhang C, Meng Q, Peters M, He Y, Ni C, Slipetz D, Crackower MA, Houshyar H, Tan CM, Asante-Appiah E, O'Neill G, Luo MJ, Thieringer R, Yuan J, Chiu CS, Lum PY, Lamb J, Boie Y, Wilkinson HA, Schadt EE, Dai H, Roberts C
Mol Syst Biol. 2012;8:594. PubMed: 22806142
MUTATIONS MAPT 44087741 GRCh37/hg19 rs63750912 T C Exon 10 Point, Silent Coding Increased inclusion of exon 10 in tau mRNA and thus increased the ratio of 4R/3R tau protein. Frontotemporal atrophy; Neuronal loss in the globus pallidus, substantia nigra, and locus c
MUTATIONS MAPT 44061036 GRCh37/hg19 rs62063787 T C g.97076T> C g.94250T> C Exon 4a Point, Missense Coding Unknown. Not applicable. V289A Frontotemporal Dementia: BenignNone This variant in exon 4a may be a relatively common polymorphism. It was detected in 22
PAPER Higgins JJ, Golbe LI, De Biase A, Jankovic J, Factor SA, Adler RL
Neurology. 2000 Nov 14;55(9):1364-7. PubMed: 11087782
MUTATIONS MAPT 44087704 GRCh37/hg19 T G Exon 10 Point, Missense Coding Unknown. Unknown. L284R Other Tauopathy: Pathogenic, Frontotemporal Dementia: BenignProgressive Supranuclear Palsy This mutation was identified in a Caucasian family from southern England. The f
MUTATIONS MAPT 44087705 GRCh37/hg19 rs63751423 T C g.123740T> C g.120919T> C Exon 10 Point, Silent Coding The silent L284L increases transcripts containing exon 10 and decreases transcripts lacking exon 10. The mutation is thought to destroy an exon-splicing