MAPT mutations

 Mutation (NM_001123066.3)Predicted protein changeMutation alias
Exon 1c.14G>Ap.R5H (p.R5H)R5H
Exon 1c.14G>Tp.R5L (p.R5L)R5L
Exon 2c.163G>Ap.G55R (p.G55R)G55R
Exon 9c.1775A>Cp.K257T (p.K592T)K257T
Exon 9c.1783A>Gp.I260V (p.I595V)I260V
Exon 9c.1801C>Gp.L266V (p.L601V)L266V
Exon 9c.1816G>Cp.G271R (p.G606R)G271R
Exon 9c.1820G>Tp.G272V (p.G607V)G272V
Exon 9c.1822G>Ap.G273R (p.G608R)G273R
Intron 9c.1828-15T>CIVS9-15T>C
Intron 9c.1828-11G>CIVS9-11G>C
Intron 9c.1828-10G>CIVS9-10G>C
Intron 9c.1828-10G>TIVS9-10G>T
Exon 10c.1842T>Gp.N279K (p.N614K)N279K
Exon 10c.1846_1848delAAGp.deltaK280 (p.deltaK616)deltaK280
Exon 10c.1857T>Cp.L284 (p.L619)L284L
Exon 10c.1856T>Gp.L284R (p.L619R)L284R
Exon 10c.1858A>Cp.S285R (p.S620R)S285R
Exon 10c.1876T>Cp.C291R (p.C626R)C291R
Exon 10c.1891A>Cp.N296H (p.N631H)N296H
Exon 10c.1892_1894delATAp.N296del (p.N631del)delN296
Exon 10c.1893T>Cp.N296 (p.N631)N296N
Exon 10c.1897A>Gp.K298E (p.K633E)K298E
Exon 10c.1906C>Ap.P301T (p.P636T)P301T
Exon 10c.1906C>Tp.P301S (p.P636S)P301S
Exon 10c.1907C>Tp.P301L (p.P636L)P301L
Exon 10c.1913G>Tp.G303V (p.G638V)G303V
Exon 10c.1915G>Ap.G304S (p.G639S)G304S
Exon 10c.1919G>Ap.S305N (p.S640N)S305N
Exon 10c.1919G>Tp.S305I (p.S640I)S305I
Exon 10c.1920T>Cp.S305 (p.S640)S305S
Intron 10c.1920+3G>AIVS10+3G>A
Intron 10c.1920+4A>CIVS10+4A>C
Intron 10c.1920+11T>CIVS10+11T>C
Intron 10c.1920+12C>TIVS10+12C>T
Intron 10c.1920+12C>AIVS10+12C>A
Intron 10c.1920+13A>GIVS10+13A>G
Intron 10c.1920+14C>TIVS10+14C>T
Intron 10c.1920+15A>CIVS10+15A>C
Intron 10c.1920+16C>TIVS10+16C>T
Intron 10c.1920+19C>GIVS10+19C>G
Exon 11c.1949T>Gp.L315R (p.L650R)L315R
Exon 11c.1950G>Ap.L315 (p.L650)L315L
Exon 11c.1955A>Tp.K317M (p.K652M)K317M
Exon 11c.1964C>Tp.S320F (p.S655F)S320F
Exon 11c.1999C>Tp.P332S (p.P667S)P332S
Exon 12c.2008G>Ap.G335S (p.G670S)G335S
Exon 12c.2009G>Tp.G335V (p.G670V)G335V
Exon 12c.2012A>Gp.Q336R (p.Q671R)Q336R
Exon 12c.2013G>Cp.Q336H (p.Q671H)Q336H
Exon 12c.2014G>Ap.V337M (p.V672M)V337M
Exon 12c.2030A>Tp.E342V (p.E677V)E342V
Exon 12c.2057A>Gp.Q351R (p.Q686R)Q351R
Exon 12c.2060C>Tp.S352L (p.S687L)S352L
Exon 12c.2071T>Ap.S356T (p.S691T)S356T
Exon 12c.2092G>Ap.V363I (p.V698I)V363I
Exon 12c.2093T>Cp.V363A (p.V698A)V363A
Exon 12c.2095C>Tp.P364S (p.P699S)P364S
Exon 12c.2101G>Ap.G366R (p.G701R)G366R
Exon 12c.2111A>Tp.K369I (p.K704I)K369I
Exon 13c.2120A>Gp.E372G (p.E707G)E372G
Exon 13c.2170G>Ap.G389R (p.G724R)G389R (2170G>A)
Exon 13c.2170G>Cp.G389R (p.G724R)G389R (2170G>C)
Exon 13c.2221C>Tp.R406W (p.R741W)R406W
Exon 13c.2233A>Cp.N410H (p.N745H)N410H
Exon 13c.2275C>Ap.Q424K (p.Q759K)Q424K
Exon 13c.2285C>Tp.T427M (p.T762M)T427M