Unique variants in the MAPT gene

Information The variants shown are described using the transcript reference sequence.

47 entries on 1 page. Showing entries 1 - 47.
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Effect     
Reported     
Exon     
AscendingDNA change (cDNA)     
RNA change     
Protein     
Variant/VariO/DNA     
Variant/VariO/protein     
DNA change (genomic) (hg19)     
Reference     
DB-ID     
Frequency     
Owner     
./. 1 10 c.? r.exon 10 skipping P.? - - G.? Luo Y et al. (2014) GRN_000076 - XY Liu
./. 1 2 c.14G>A r.(?) p.(Arg5His) - - g.44039717G>A 1 more item MAPT_000015 - Y Yang
./. 1 3 c.163G>C r.(?) p.(Gly55Arg) - - g.44049254G>C Iyer A et al. (2013) MAPT_000058 - XY Liu
./. 1 4 c.224T>C r.(?) p.(Val75Ala) - - g.44051754T>C 1 more item MAPT_000022 - Y Yang
./. 5 7 c.454G>A r.(?) p.(Ala152Thr) - - g.44068850G>A Kovacs GG et al.(2011), Coppola G et al. (2012), Lee SE et aL. (2013), Pastor P et al. (2016), 1 more item MAPT_000053 - XY Liu
./. 1 8 c.770A>C r.(?) p.(Lys257Thr) - - g.44073978A>C 1 more item MAPT_000018 - Y Yang
./. 1 8 c.778A>G r.(?) p.(Ile260Val) - - g.44073986A>G Grover A et al. (2003) MAPT_000064 - XY Liu
./. 1 8 c.796C>G r.(?) p.(Leu266Val) - - g.44074004C>G 1 more item MAPT_000016 - Y Yang
./. 1 8 c.815G>T r.(?) p.(Gly272Val) - - g.44074023G>T 1 more item MAPT_000002 - Y Yang
./. 1 8 c.817G>C r.(?) p.(Gly273Arg) - - g.44074025G>C van der Zee J et al. (2006) MAPT_000065 - XY Liu
./. 5 9 c.837T>A r.(?) p.(Asn279Lys) - - g.44087690T>A Whitwell JL et al. (2011), Wren MC et al. (2015),dbSNP, Takada LT et al. (2016), 2 more items MAPT_000010 - Y Yang, XY Liu
./. 1 10 c.838_840delAAG r.(?) p.(Lys280del) - - g.44087691_44087693delAAG Rizzu P et al. (1999) MAPT_000074 - XY Liu
./. 1 9 c.851T>G r.(?) p.(Leu284Arg) - - g.44087704T>G Rohrer JD1, Paviour D, Vandrovcova J, Hodges J, de Silva R, Rossor MN.(2011) MAPT_000044 - Y Yang
./. 1 9 c.886A>C r.(?) p.(Asn296His) - - g.44087739A>C 1 more item MAPT_000019 - Y Yang
./. 1 9 c.886A>G r.(?) p.(Asn296Asp) - - g.44087739A>G Cohn-Hokke PE et al. (2014) MAPT_000066 - XY Liu
./. 2 9 c.888T>A r.(?) p.(Asn296Lys) - - g.44087741T>A Brown J1, Lantos PL, Roques P, Fidani L, Rossor MN.(1996), 1 more item MAPT_000013 - Y Yang
./. 1 9 c.901C>A r.(?) p.(Pro301Thr) - - g.44087754C>A Lladó A, Ezquerra M, Sánchez-Valle R, Rami L, Tolosa E, Molinuevo JL.(2007) MAPT_000008 - Y Yang
./. 2 9 c.901C>T r.(?) p.(Pro301Ser) - - g.44087754C>T Bellucci A et al. (2011), 1 more item MAPT_000012 - Y Yang, XY Liu
./. 8 9 c.902C>T r.(?) p.(Pro301Leu) - - g.44087755C>T Whitwell JL et al. (2011), Schulz KL et al. (2012), Sitek EJ et al. (2014), Kimura T et al. (2013), 4 more items MAPT_000001 - Y Yang, XY Liu
./. 1 9 c.903G>A r.(=) p.(=) - - g.44087756G>A Miyamoto K et al. (2011) MAPT_000067 - XY Liu
./. 1 9 c.908G>T r.(?) p.(Gly303Val) - - g.44087761G>T 1 more item MAPT_000043 - Y Yang
./. 2 9 c.914G>A r.(?) p.(Ser305Asn) - - g.44087767G>A Whitwell JL et al. (2011), 1 more item MAPT_000011 - Y Yang, XY Liu
./. 1 9 c.914G>T r.(?) p.(Ser305Ile) - - g.44087767G>T Nimsanor N et al. (2016) MAPT_000059 - XY Liu
./. 1 IVS10 c.915+11T>C r.(=) p.(=) - - g.44087779T>C Miyamoto K et al. (2011) MAPT_000035 - XY Liu
./. 1 IVS10 c.915+15A>C r.(=) p.(=) - - g.44087783A>C McCarthy A et al. (2015) MAPT_000075 - XY Liu
./. 1 IVS10 c.915+16C>T r.(=) p.(=) - - g.44087784C>T Takada LT et al. (2016) MAPT_000031 - XY Liu
./. 1 10 c.944T>G r.(?) p.(Leu315Arg) - - g.44091637T>G van Herpen E et al. (2003) MAPT_000068 - XY Liu
./. 1 10 c.950A>T r.(?) p.(Lys317Met) - - g.44091643A>T 1 more item MAPT_000017 - Y Yang
./. 1 10 c.959C>T r.(?) p.(Ser320Phe) - - g.44091652C>T 1 more item MAPT_000005 - Y Yang
./. 1 10 c.994C>T r.(?) p.(Pro332Ser) - - g.44091687C>T Deramecourt V et al. (2012) MAPT_000069 - XY Liu
./. 1 11 c.1003G>A r.(?) p.(Gly335Ser) - - g.44095989G>A Spina S et al. (2007) MAPT_000070 - XY Liu
./. 1 11 c.1004G>T r.(?) p.(Gly335Val) - - g.44095990G>T Neumann M1, Diekmann S, Bertsch U, Vanmassenhove B, Bogerts B, Kretzschmar HA.(2005) MAPT_000006 - Y Yang
./. 1 11 c.1007A>G r.(?) p.(Gln336Arg) - - g.44095993A>G 1 more item MAPT_000021 - Y Yang
./. 1 11 c.1008G>T r.(?) p.(Gln336His) - - g.44095994G>T Tacik P et al. (2015) MAPT_000071 - XY Liu
./. 3 11 c.1009G>A r.(?) p.(Val337Met) - - g.44095995G>A Domoto-Reilly K et al. (2017), Spina S et al. (2017), 1 more item MAPT_000009 - Y Yang, XY Liu
./. 1 11 c.1025A>T r.(?) p.(Glu342Val) - - g.44096011A>T 1 more item MAPT_000014 - Y Yang
?/. 1 11 c.1043A>G r.(1043a>g) p.(Asp348Gly) - - g.44096029A>G Paola Origone, et al. (2018) MAPT_000076 - XY Liu
./. 1 11 c.1052A>G r.(?) p.(Gln351Arg) - - g.44096038A>G Liang Y et al. (2014) MAPT_000057 - XY Liu
./. 1 11 c.1066T>A r.(?) p.(Ser356Thr) - - g.44096052T>A Momeni P1, Wickremaratchi MM, Bell J, Arnold R, Beer R, Hardy J, Revesz T, Neal JW, Morris HR.(2010) MAPT_000023 - Y Yang
./. 2 11 c.1087G>A r.(?) p.(Val363Ile) - - g.44096073G>A Anfossi M et aL. (2011), 1 more item MAPT_000024 - Y Yang, XY Liu
./. 1 11 c.1090C>T r.(?) p.(Pro364Ser) - - g.44096076C>T Rossi G et al. (2012) MAPT_000072 - XY Liu
./. 1 11 c.1096G>C r.(?) p.(Gly366Arg) - - g.44096082G>C Rossi G et al. (2012) MAPT_000073 - XY Liu
./. 1 11 c.1106A>T r.(?) p.(Lys369Ile) - - g.44096092A>T 1 more item MAPT_000020 - Y Yang
./. 1 12 c.1165G>A r.(?) p.(Gly389Arg) - - g.44101376G>A Sun L et al. (2017) MAPT_000060 - XY Liu
./. 2 12 c.1165G>C r.(?) p.(Gly389Arg) - - g.44101376G>C Whitwell JL et al. (2011), 1 more item MAPT_000004 - Y Yang, XY Liu
./. 10 12, 8 c.1216C>T r.(?) p.(Arg406Trp) - - g.44101427C>T Ikeuchi T et al. (2011), Gauthier-Kemper A et al. (2011), Kimura T et al. (2013), 7 more items MAPT_000003, MAPT_000052 - Y Yang, XY Liu
./. 1 12 c.1280C>T r.(?) p.(Thr427Met) - - g.44101491C>T 1 more item MAPT_000007 - Y Yang
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