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
SEARCH RESULTS
331009 RESULTS
MAPT N296N
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
MAPT V289A
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
An extended 5'-tau susceptibility haplotype in progressive supranuclear palsy.
Neurology. 2000 Nov 14;55(9):1364-7. PubMed: 11087782MAPT L284R
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
MAPT L284L
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