All variants in the PSEN2 gene

Information The variants shown are described using the NM_000447.2 transcript reference sequence.

38 entries on 1 page. Showing entries 1 - 38.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Variant/VariO/DNA     

Variant/VariO/protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Owner     
./. 5 c.184C>T r.(?) p.(Arg62Cys) - - g.227071448C>T Bagyinszky E et al. (2016) PSEN2_000021 - XY Liu
./. 5 c.184C>T r.(?) p.(Arg62Cys) - - g.227071448C>T An SS et al. (2016) PSEN2_000021 - XY Liu
./. 5 c.185G>A r.(?) p.(Arg62His) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition VariO:0021 amino acid substitution g.227071449G>A Cruts M1, van Duijn CM, Backhovens H, Van den Broeck M, Wehnert A, Serneels S, Sherrington R, Hutton M, Hardy J, St George-Hyslop PH, Hofman A, Van Broeckhoven C.(1998) PSEN2_000001 - Y Yang
./. 5 c.185G>A r.(?) p.(Arg62His) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition VariO:0021 amino acid substitution g.227071449G>A Ringman JM1, Goate A, Masters CL, Cairns NJ, Danek A, Graff-Radford N, Ghetti B, Morris JC; Dominantly Inherited Alzheimer Network.(2014) PSEN2_000001 - Y Yang
./. 5 c.211C>T r.(?) p.(Arg71Trp) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition VariO:0021 amino acid substitution g.227071475C>T Wallon D1, Rousseau S, Rovelet-Lecrux A, Quillard-Muraine M, Guyant-Maréchal L, Martinaud O, Pariente J, Puel M, Rollin-Sillaire A, Pasquier F, Le Ber I(2012) PSEN2_000009 - Y Yang
./. 5 c.245A>G r.(?) p.(Lys82Arg) - - g.227071509A>G Shi Z et al. (2015) PSEN2_000012 - XY Liu
./. 5 c.245A>G r.(?) p.(Lys82Arg) - - g.227071509A>G Bagyinszky E et al. (2016) PSEN2_000012 - XY Liu
./. 5 c.254C>T r.(?) p.(Ala85Val) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition VariO:0021 amino acid substitution g.227071518C>T Piscopo P1, Marcon G, Piras MR, Crestini A, Campeggi LM, Deiana E, Cherchi R, Tanda F, Deplano A, Vanacore N, Tagliavini F, Pocchiari M, Giaccone G, Confaloni A.(2008) PSEN2_000002 - Y Yang
./. 5 c.254C>T r.(?) p.(Ala85Val) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition VariO:0021 amino acid substitution g.227071518C>T Piscopo P1, Marcon G, Piras MR, Crestini A, Campeggi LM, Deiana E, Cherchi R, Tanda F, Deplano A, Vanacore N, Tagliavini F, Pocchiari M, Giaccone G, Confaloni A.(2008) PSEN2_000002 - Y Yang
./. 5 c.364A>C r.(?) p.(Thr122Pro) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution g.227073246A>C Finckh U1, Müller-Thomsen T, Mann U, Eggers C, Marksteiner J, Meins W, Binetti G, Alberici A, Hock C, Nitsch RM, Gal A.(2000) PSEN2_000003 - Y Yang
./. 6 c.368C>T p.(Pro123Leu) r.(?) - - g.227073250C>T Xia M et al. (2015) PSEN2_000017 - XY Liu
./. 6 c.368C>T r.(?) p.(Pro123Leu) - - g.227073250C>T Bagyinszky E et al. (2016) PSEN2_000017 - XY Liu
./. 6 c.389C>T r.(?) p.(Ser130Leu) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition VariO:0021 amino acid substitution g.227073271C>T Tedde A1, Nacmias B, Ciantelli M, Forleo P, Cellini E, Bagnoli S, Piccini C, Caffarra P, Ghidoni E, Paganini M, Bracco L, Sorbi S.(2003) PSEN2_000004 - Y Yang
./. 6 c.389C>T r.(?) p.(Ser130Leu) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition VariO:0021 amino acid substitution g.227073271C>T Ringman JM1, Goate A, Masters CL, Cairns NJ, Danek A, Graff-Radford N, Ghetti B, Morris JC; Dominantly Inherited Alzheimer Network.(2014) PSEN2_000004 - Y Yang
./. 6 c.421A>T r.(?) p.(Asn141Tyr) - - g.227073303A>T Bagyinszky E et al. (2016) PSEN2_000022 - XY Liu
./. 6 c.422A>T r.(?) p.(Asn141Ile) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution g.227073304A>T Levy-Lahad E1, Wasco W, Poorkaj P, Romano DM, Oshima J, Pettingell WH, Yu CE, Jondro PD, Schmidt SD, Wang K, et al.(1995) PSEN2_000005 - Y Yang
./. 6 c.422A>T r.(?) p.(Asn141Ile) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution g.227073304A>T Müller U, Winter P, Graeber MB.(2011) PSEN2_000005 - Y Yang
./. 6 c.422A>T r.(?) p.(Asn141Ile) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution g.227073304A>T Ryman DC1, Acosta-Baena N2, Aisen PS2, Bird T2, Danek A2, Fox NC2, Goate A2, Frommelt P2, Ghetti B2, Langbaum JB2, Lopera F2, Martins R2, Masters CL2, Mayeux RP2, McDade E2(2014) PSEN2_000005 - Y Yang
./. 6 c.422A>T r.(?) p.(Asn141Ile) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution g.227073304A>T Ringman JM1, Goate A, Masters CL, Cairns NJ, Danek A, Graff-Radford N, Ghetti B, Morris JC; Dominantly Inherited Alzheimer Network.(2014) PSEN2_000005 - Y Yang
./. 6 c.422A>T r.(?) p.(Asn141Ile) - - g.227073304A>T Blauwendraat C et al.(2016) PSEN2_000005 - XY Liu
./. 6 c.442G>A r.(?) p.(Val148Ile) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition VariO:0021 amino acid substitution g.227073324G>A Lao JI1, Beyer K, Fernández-Novoa L, Cacabelos R.(1998) PSEN2_000006 - Y Yang
./. 6 c.482A>G r.(?) p.(Lys161Arg) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition VariO:0021 amino acid substitution g.227073364A>G Wallon D1, Rousseau S, Rovelet-Lecrux A, Quillard-Muraine M, Guyant-Maréchal L, Martinaud O, Pariente J, Puel M, Rollin-Sillaire A, Pasquier F, Le Ber I(2012) PSEN2_000010 - Y Yang
./. 7 c.505C>A r.(?) p.(His169Asn) - - g.227075798C>A Bagyinszky E et al. (2016) PSEN2_000023 - XY Liu
./. 7 c.505C>G r.(?) p.(His169Asp) - - g.227075798C>G Shi Z et al. (2015) PSEN2_000011 - XY Liu
./. 8 c.622A>T r.(?) p.(Asn141Ile) - - g.227076585A>T Muchnik C et al. (2015) PSEN2_000016 - XY Liu
./. 8 c.635G>T r.(?) p.(Gly212Val) - - g.227076598G>T Marín-Muñoz J et al. (2016) PSEN2_000020 - XY Liu
./. 8 c.640G>C r.(?) p.(Val214Leu) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution g.227076603G>C Youn YC, Bagyinszky E, Kim H, Choi BO, An SS1, Kim S.(2014) PSEN2_000008 - Y Yang
./. 8 c.640G>C r.(?) p.(Val214Leu) - - g.227076603G>C Shi Z et al. (2015) PSEN2_000008 - XY Liu
./. 8 c.640G>C r.(?) p.(Val214Leu) - - g.227076603G>C Bagyinszky E et al. (2016) PSEN2_000008 - XY Liu
./. 8 c.640G>C r.(?) p.(Val214Leu) - - g.227076603G>C Bagyinszky E et al. (2016) PSEN2_000008 - XY Liu
./. 8 c.640G>C r.(?) p.(Val214Leu) - - g.227076603G>C An SS et al. (2016) PSEN2_000008 - XY Liu
./. 8 c.703A>T r.(?) p.(Ile235Phe) - - g.227076666A>T Lee JH et al. (2014) PSEN2_000014 - XY Liu
./. 8 c.713T>C r.(?) p.(Leu238Pro) - - g.227076676T>C Blauwendraat C et al.(2016) PSEN2_000018 - XY Liu
./. 8 c.715A>G r.(?) p.(Met239Val) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition VariO:0021 amino acid substitution g.227076678A>G Rogaev EI1, Sherrington R, Rogaeva EA, Levesque G, Ikeda M, Liang Y, Chi H, Lin C, Holman K, Tsuda T, et al.(1995) PSEN2_000007 - Y Yang
./. 8 c.715A>G r.(?) p.(Met239Val) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition VariO:0021 amino acid substitution g.227076678A>G Wallon D1, Rousseau S, Rovelet-Lecrux A, Quillard-Muraine M, Guyant-Maréchal L, Martinaud O, Pariente J, Puel M, Rollin-Sillaire A, Pasquier F, Le Ber I(2012) PSEN2_000007 - Y Yang
./. 10 c.901A>G r.(?) p.(Pro301Ala) - - g.227078993A>G Lee JH et al. (2014) PSEN2_000015 - XY Liu
./. 11 c.1030T>G r.(?) p.(Ala344Val) - - g.227079503T>G Lee JH et al. (2014) PSEN2_000013 - XY Liu
./. 11 c.1043C>T r.(?) p.(Pro348Leu) - - g.227079516C>T Blauwendraat C et al.(2016) PSEN2_000019 - XY Liu
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