Unique variants in the PRNP gene

Information The variants shown are described using the NM_000311.3 transcript reference sequence.

43 entries on 1 page. Showing entries 1 - 43.
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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 2 c.116C>T r.(?) p.(Pro39Leu) - - g.4679982C>T Oldoni E et al. (2016) PRNP_000043 - XY Liu
./. 1 2 c.142C>A r.(?) p.(Arg48Ser) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution g.4680008C>A Jones M1, Odunsi S1, du Plessis D1, Vincent A1, Bishop M1, Head MW1, Ironside JW1, Gow D2.(2014) PRNP_000036 - Y Yang
./. 1 2 c.160_183del24 r.(?) p.(Pro84_Gln91del) VariO:0141 DNA deletion VariO:0016 sequence retaining amino acid deletion g.4680026_4680049del24 1 more item PRNP_000037 - Y Yang
./. 1 2 c.184_207del24 r.(?) p.(Pro84_Gln91del) VariO:0141 DNA deletion VariO:0016 sequence retaining amino acid deletion g.4680050_4680073del24 1 more item PRNP_000038 - Y Yang
./. 1 2 c.250C>T r.(?) p.(Pro84Ser) - - g.4680116C>T Jones M et al. (2014) PRNP_000042 - XY Liu
./. 9 2 c.305C>T r.(?) p.(Pro102Leu) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition VariO:0021 amino acid substitution g.4680171C>T Riudavets MA et al. (2014), Ando R et al. (2016), Pirisinu L et al. (2016), Deters KD et al. (2016), 5 more items PRNP_000024 XYZ19940216 XY Liu, Y Yang
./. 2 2 c.313C>A r.(?) p.(Pro105Thr) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution g.4680179C>A Polymenidou M1, Prokop S, Jung HH, Hewer E, Peretz D, Moos R, Tolnay M, Aguzzi A.(2011) PRNP_000019 - Y Yang
./. 1 2 c.313C>T r.(?) p.(Pro105Ser) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition VariO:0021 amino acid substitution g.4680179C>T Tunnell E1, Wollman R, Mallik S, Cortes CJ, Dearmond SJ, Mastrianni JA.(2008) PRNP_000031 - Y Yang
./. 2 2 c.314C>T r.(?) p.(Pro105Leu) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition VariO:0021 amino acid substitution g.4680180C>T Mano KK et al. (2016), 1 more item PRNP_000027 - XY Liu, Y Yang
./. 2 2 c.341G>T r.(?) p.(Gly114Val) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution g.4680207G>T Tian C1, Liu D, Chen C, Xu Y, Gong HS, Chen C, Shi Q, Zhang BY, Han J, Dong XP.(2013), 1 more item PRNP_000018 - Y Yang
./. 4 2 c.350C>T r.(?) p.(Ala117Val) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition VariO:0021 amino acid substitution g.4680216C>T Pirisinu L et al. (2016), Doh-ura K1, Tateishi J, Sasaki H, Kitamoto T, Sakaki Y.(1989), 2 more items PRNP_000011 - XY Liu, Y Yang
./. 1 2 c.379G>A r.(?) p.(Gly127Ser) - - g.4680245G>A Ch'ng GS et al.(2015) PRNP_000041 - XY Liu
./. 3 2 c.385A>G r.(?) p.(Met129Val) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition VariO:0021 amino acid substitution g.4680251A>G Cervenáková L1, Goldfarb LG, Garruto R, Lee HS, Gajdusek DC, Brown P.(1998), 2 more items PRNP_000001 - Y Yang
./. 2 2 c.392G>T r.(?) p.(Gly131Val) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution g.4680258G>T 2 more items PRNP_000028 - Y Yang
./. 2 2 c.398C>T r.(?) p.(Ala133Val) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition VariO:0021 amino acid substitution g.4680264C>T 1 more item PRNP_000030 - Y Yang
./. 2 2 c.435T>A r.(?) p.(Tyr145*) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0015 protein truncation g.4680301T>A Zhang W et al. (2016), Kitamoto T1, Iizuka R, Tateishi J.(1993) PRNP_000032 - XY Liu, Y Yang
./. 1 2 c.443G>A r.(?) p.(Arg148His) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition VariO:0021 amino acid substitution g.4680309G>A Krebs B1, Lederer RM, Windl O, Grasbon-Frodl EM, Zerr I, Kretzschmar HA.(2005) PRNP_000014 - Y Yang
./. 1 2 c.478C>T r.(?) p.(Gln160*) - - g.4680344C>T Zhang W et al. (2016) PRNP_000040 - XY Liu
./. 1 2 c.489C>A r.(?) p.(Tyr163*) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0015 protein truncation g.4680355C>A Themistocleous AC1, Kennett R, Husain M, Palace J, Mead S, Bennett DL.(2014) PRNP_000039 - Y Yang
./. 1 2 c.512A>G r.(?) p.(Asn171Ser) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition VariO:0021 amino acid substitution g.4680378A>G Appleby BS1, Appleby KK, Hall RC, Wallin MT.(2010) PRNP_000012 - Y Yang
./. 2 2 c.527T>G r.(?) p.(Val176Gly) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution g.4680393T>G 1 more item PRNP_000022 - Y Yang
./. 13 2 c.532G>A r.(?) p.(Asp178Asn) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition VariO:0021 amino acid substitution g.4680398G>A Kretzschmar HA1, Neumann M, Stavrou D.(1995), Zhang W et al. (2016), Chen S et al. (2015), 8 more items PRNP_000002 - Y Yang, XY Liu
./. 8 2 c.538G>A r.(?) p.(Val180Ile) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition VariO:0021 amino acid substitution g.4680404G>A Shi Q1, Shen XJ, Zhou W, Xiao K, Zhang XM, Zhang BY, Dong XP.(2014), Peden AH et al. (2014), 6 more items PRNP_000005 - Y Yang, XY Liu
./. 1 2 c.560A>G r.(?) p.(His187Arg) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition VariO:0021 amino acid substitution g.4680426A>G Bütefisch CM1, Gambetti P, Cervenakova L, Park KY, Hallett M, Goldfarb LG.(2000) PRNP_000029 - Y Yang
./. 2 2 c.563C>A r.(?) p.(Thr188Lys) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution g.4680429C>A 2 more items PRNP_000017 - Y Yang
./. 2 2 c.563C>G r.(?) p.(Thr188Arg) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution g.4680429C>G 2 more items PRNP_000013 - Y Yang
./. 1 2 c.578C>T r.(?) p.(Thr193Ile) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition VariO:0021 amino acid substitution g.4680444C>T 1 more item PRNP_000015 - Y Yang
./. 5 2 c.586G>A r.(?) p.(Glu196Lys) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition VariO:0021 amino acid substitution g.4680452G>A Cheng CJ, Daggett V.(2014), Cheng CJ et al. (2014), 3 more items PRNP_000008 - Y Yang, XY Liu
./. 2 2 c.587A>C r.(?) p.(Glu196Ala) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution g.4680453A>C Zhang H1, Wang M2, Wu L3, Zhang H1, Jin T1, Wu J1, Sun L4.(2014), Shi Q et al. (2016) PRNP_000021 - Y Yang, XY Liu
./. 3 2 c.593T>C r.(?) p.(Phe198Ser) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition VariO:0021 amino acid substitution g.4680459T>C Pirisinu L et al. (2016), Deters KD et al. (2016), 1 more item PRNP_000025 - XY Liu, Y Yang
./. 10 2 c.598G>A r.(?) p.(Glu200Lys) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition VariO:0021 amino acid substitution g.4680464G>A Lee SM, Chung M, Hwang KJ, Ju YR, Hyeon JW, Park JS, Kim CK, Choi S, Lee J, Kim SY1.(2014), 9 more items PRNP_000003 - Y Yang, XY Liu
./. 1 2 c.605A>G r.(?) p.(Asp202Gly) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition VariO:0021 amino acid substitution g.4680471A>G Heinemann U1, Krasnianski A, Meissner B, Grasbon-Frodl EM, Kretzschmar HA, Zerr I.(2008) PRNP_000016 - Y Yang
./. 5 2 c.607G>A r.(?) p.(Val203Ile) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition VariO:0021 amino acid substitution g.4680473G>A Shi Q1, Chen C, Wang XJ, Zhou W, Wang JC, Zhang BY, Gao C, Gao C, Han J, Dong XP.(2013), 4 more items PRNP_000009 - Y Yang, XY Liu
./. 3 2 c.623G>A r.(?) p.(Arg208His) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition VariO:0021 amino acid substitution g.4680489G>A Mastrianni JA1, Iannicola C, Myers RM, DeArmond S, Prusiner SB.(1996), 2 more items PRNP_000007 - Y Yang
./. 4 2 c.628G>A r.(?) p.(Val210Ile) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition VariO:0021 amino acid substitution g.4680494G>A Imbriani P et al. (2016), 3 more items PRNP_000004 - XY Liu, Y Yang
./. 1 2 c.631G>C r.(?) p.(Glu211Gln) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution g.4680497G>C 1 more item PRNP_000010 - Y Yang
./. 1 2 c.635A>C r.(?) p.(Gln212Pro) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution g.4680501A>C Collins S1, McLean CA, Masters CL.(2001) PRNP_000035 - Y Yang
./. 2 2 c.643A>G r.(?) p.(Ile215Val) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition VariO:0021 amino acid substitution g.4680509A>G Zhang W et al. (2016), 1 more item PRNP_000020 - XY Liu, Y Yang
./. 1 2 c.650A>G r.(?) p.(Gln217Arg) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition VariO:0021 amino acid substitution g.4680516A>G 1 more item PRNP_000026 - Y Yang
./. 4 2 c.652T>A r.(?) p.(Tyr218Asn) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution g.4680518T>A Cheng CJ, Daggett V.(2014), Cheng CJ et al. (2014), Matamoros-Angles A et al. (2017), 1 more item PRNP_000023 - Y Yang, XY Liu
./. 1 2 c.655G>A r.(?) p.(Glu219Lys) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition VariO:0021 amino acid substitution g.4680521G>A Tanaka Y1, Minematsu K, Moriyasu H, Yamaguchi T, Yutani C, Kitamoto T, Furukawa H.(1997) PRNP_000033 - Y Yang
./. 1 2 c.695T>C r.(?) p.(Met232Thr) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition VariO:0021 amino acid substitution g.4680561T>C Bratosiewicz J1, Barcikowska M, Cervenakowa L, Brown P, Gajdusek DC, Liberski PP.(2000) PRNP_000034 - Y Yang
./. 8 2 c.695T>G r.(?) p.(Met232Arg) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution g.4680561T>G Iwasaki Y1, Yokoi F, Tatsumi S, Mimuro M, Iwai K, Kitamoto T, Yoshida M.(2013), Lim JG et al. (2015), 6 more items PRNP_000006 - Y Yang, XY Liu
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