Effect
|
Exon
|
DNA change (cDNA)
|
RNA change
|
Protein
|
Variant/VariO/DNA
|
Variant/VariO/protein
|
DNA change (genomic) (hg19)
|
Reference
|
DB-ID
|
Frequency
|
Owner
|
./. |
1 |
c.-53C>T |
r.(=) |
p.(=) |
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition |
- |
g.163148753G>A |
Kay DM, 2007 |
PARK2_000077 |
- |
Y Yang |
./. |
1 |
c.-44C>A |
r.(=) |
p.(=) |
VariO:0136 DNA substitution; VariO:0316 transversion |
- |
g.163148744G>T |
Kay DM, 2007 |
PARK2_000134 |
- |
Y Yang |
./. |
1 |
c.-39G>T |
r.(=) |
p.(=) |
VariO:0136 DNA substitution; VariO:0316 transversion |
- |
g.163148739C>A |
Brüggemann N, 2009 |
PARK2_000133 |
- |
Y Yang |
./. |
1 |
c.-21G>T |
r.(=) |
p.(=) |
VariO:0136 DNA substitution; VariO:0316 transversion |
- |
g.163148721C>A |
Hedrich K, 2002;Clark LN, 2006;Wang Y, 2008;Brüggemann N, 2009 |
PARK2_000132 |
- |
Y Yang |
./. |
1 |
c.-6G>C |
r.(=) |
p.(=) |
VariO:0136 DNA substitution; VariO:0316 transversion |
- |
g.163148706C>G |
Varrone A, 2004 |
PARK2_000131 |
- |
Y Yang |
./. |
1 |
c.1A>C |
r.? |
p.? |
VariO:0136 DNA substitution; VariO:0316 transversion |
- |
g.163148700T>G |
Rawal N, 2003 |
PARK2_000130 |
- |
Y Yang |
./. |
1i |
c.7+1G>A |
r.spl? |
p.? |
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition |
- |
g.163148693C>T |
Illarioshkin SN, 2003;Chien HF, 2006 |
PARK2_000129 |
- |
Y Yang |
./. |
2 |
c.29G>A |
r.(?) |
p.(Ser10Asn) |
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition |
VariO:0021 amino acid substitution |
g.162864484C>T |
Nuytemans K, 2009 |
PARK2_000128 |
- |
Y Yang |
./. |
2 |
c.34G>C |
r.(?) |
p.(Gly12Arg) |
VariO:0136 DNA substitution; VariO:0316 transversion |
VariO:0021 amino acid substitution |
g.162864479C>G |
Mellick GD, 2009 |
PARK2_000127 |
- |
Y Yang |
./. |
2 |
c.43G>A |
r.(?) |
p.(Val15Met) |
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition |
VariO:0021 amino acid substitution |
g.162864470C>T |
Mu?oz E, 2002 |
PARK2_000136 |
- |
Y Yang |
./. |
2 |
c.48G>A |
r.(=) |
p.(=) |
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition |
- |
g.162864465C>T |
Okubadejo N, 2008 |
PARK2_000135 |
- |
Y Yang |
./. |
2 |
c.52G>A |
r.(?) |
p.(Asp18Asn) |
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition |
VariO:0021 amino acid substitution |
g.162864461C>T |
Wang Y, 2008 |
PARK2_000057 |
- |
Y Yang |
./. |
2 |
c.92C>A |
r.(?) |
p.(Ala31Asp) |
VariO:0136 DNA substitution; VariO:0316 transversion |
VariO:0021 amino acid substitution |
g.162864421G>T |
Chaudhary S, 2006 |
PARK2_000055 |
- |
Y Yang |
./. |
2 |
c.97C>T |
r.(?) |
p.(Arg33*) |
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition |
VariO:0015 protein truncation |
g.162864416G>A |
Maruyama M, 2000 |
PARK2_000056 |
- |
Y Yang |
./. |
2 |
c.98G>A |
r.(?) |
p.(Arg33Gln) |
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition |
VariO:0021 amino acid substitution |
g.162864415C>T |
Hertz JM, 2006;Macedo MG, 2009;Pankratz N, 2009 |
PARK2_000060 |
- |
Y Yang |
./. |
2 |
c.101A>G |
r.(?) |
p.(Gln34Arg) |
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition |
VariO:0021 amino acid substitution |
g.162864412T>C |
Chaudhary S, 2006;Biswas A, 2006;Myhre R, 2008;Bardien S, 2009 |
PARK2_000059 |
- |
Y Yang |
./. |
2 |
c.101delA |
r.(?) |
p.(Gln34Argfs*10) |
VariO:0141 DNA deletion |
VariO:0023 amphigoric amino acid indel |
g.162864412delT |
Nisipeanu P, 2001;Inzelberg R, 2003;Moro E, 2008 |
PARK2_000061 |
- |
Y Yang |
./. |
2 |
c.101_102delAG |
r.(?) |
p.(Gln34Argfs*5) |
VariO:0141 DNA deletion |
VariO:0023 amphigoric amino acid indel |
g.162864411_162864412delCT |
Abbas N, 1999;Hedrich K, 2002;Foroud T, 2003;Gouider-Khouja N, 2003;Illarioshkin SN, 2003;Scherfler C, 2004;Romito LM, 2005;Lesage S, 2008;Guo JF, 2008;Lohmann E, 2009;Brooks J, 2009;Brüggemann N, 2009;Koziorowski D, 2009;Pankratz N, 2009;Guo JF, 2010 |
PARK2_000058 |
- |
Y Yang |
./. |
2 |
c.110C>T |
r.(?) |
p.(Pro37Leu) |
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition |
VariO:0021 amino acid substitution |
g.162864403G>A |
Kann M, 2002;Nuytemans K, 2009 |
PARK2_000049 |
- |
Y Yang |
./. |
2 |
c.111G>A |
r.(=) |
p.(=) |
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition |
- |
g.162864402C>T |
Okubadejo N, 2008 |
PARK2_000050 |
- |
Y Yang |
./. |
2 |
c.118C>T |
r.(?) |
p.(Gln40*) |
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition |
VariO:0015 protein truncation |
g.162864395G>A |
Choi JM, 2008 |
PARK2_000097 |
- |
Y Yang |
./. |
2 |
c.124C>T |
r.(?) |
p.(Arg42Cys) |
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition |
VariO:0021 amino acid substitution |
g.162864389G>A |
Chaudhary S, 2006;Biswas A, 2006;Brooks JA, 2009 |
PARK2_000096 |
- |
Y Yang |
./. |
2 |
c.125G>A |
r.(?) |
p.(Arg42His) |
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition |
VariO:0021 amino acid substitution |
g.162864388C>T |
Madegowda RH, 2005;Biswas A, 2006 |
PARK2_000099 |
- |
Y Yang |
./. |
2 |
c.125G>C |
r.(?) |
p.(Arg42Pro) |
VariO:0136 DNA substitution; VariO:0316 transversion |
VariO:0021 amino acid substitution |
g.162864388C>G |
Terreni L, 2001;Hedrich K, 2002;Bertoli-Avella AM, 2005;Clark LN, 2006;Pellecchia MT, 2007;Wang Y, 2008;Sironi F, 2008;Macedo MG, 2009 |
PARK2_000098 |
- |
Y Yang |
./. |
2 |
c.136G>A |
r.(?) |
p.(Ala46Thr) |
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition |
VariO:0021 amino acid substitution |
g.162864377C>T |
Okubadejo N, 2008 |
PARK2_000100 |
- |
Y Yang |
./. |
2 |
c.156_157insT |
r.(?) |
p.(Asp53*) |
VariO:0142 DNA insertion |
VariO:0015 protein truncation |
g.162864356_162864357insA |
Aguiar P de C, 2008;Barsottini OG, 2009 |
PARK2_000102 |
- |
Y Yang |
./. |
2 |
c.160T>C |
r.(?) |
p.(Trp54Arg) |
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition |
VariO:0021 amino acid substitution |
g.162864353A>G |
CamRos ST, 2009 |
PARK2_000101 |
- |
Y Yang |
./. |
2 |
c.167T>A |
r.(?) |
p.(Val56Glu) |
VariO:0136 DNA substitution; VariO:0316 transversion |
VariO:0021 amino acid substitution |
g.162864346A>T |
Hoenicka J, 2002 |
PARK2_000093 |
- |
Y Yang |
./. |
2i |
c.171+10C>T |
r.(=) |
p.(=) |
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition |
- |
g.162864332G>A |
Bardien S, 2009 |
PARK2_000092 |
- |
Y Yang |
./. |
2i |
c.171+25T>C |
r.(=) |
p.(=) |
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition |
- |
g.162864317A>G |
Padmaja MV1, Jayaraman M, Srinivasan AV, Srisailapathy CR, Ramesh A.(2012) |
PARK2_000138 |
- |
Y Yang |
./. |
2i |
c.171+25T>C |
r.(=) |
p.(=) |
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition |
- |
g.162864317A>G |
Bognar C1, Baldovic M, Benetin J, Kadasi L, Zatkova A.(2013) |
PARK2_000138 |
- |
XY Liu |
./. |
2i |
c.171+25T>C |
r.(=) |
p.(=) |
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition |
- |
g.162864317A>G |
Ros R1, Ampuero I, García de Yébenes J.(2008) |
PARK2_000138 |
- |
Y Yang |
./. |
3 |
c.220_221insGT |
r.(?) |
p.(Trp74Cysfs*8) |
VariO:0142 DNA insertion |
VariO:0023 amphigoric amino acid indel |
g.162683748_162683749insAC |
Abbas N, 1999;Pineda-Trujillo N, 2001 |
PARK2_000069 |
- |
Y Yang |
./. |
3 |
c.235G>T |
r.(?) |
p.(Glu79*) |
VariO:0136 DNA substitution; VariO:0316 transversion |
VariO:0015 protein truncation |
g.162683734C>A |
Foroud T, 2003;Pankratz N, 2009 |
PARK2_000070 |
- |
Y Yang |
./. |
3 |
c.245C>A |
r.(?) |
p.(Ala82Glu) |
VariO:0136 DNA substitution; VariO:0316 transversion |
VariO:0021 amino acid substitution |
g.162683724G>T |
Hedrich K, 2001;Varrone A, 2004;Kay DM, 2007;Lesage S, 2008;H?kansson A, 2008;Sironi F, 2008;Nuytemans K, 2009;Brooks J, 2009;Pankratz N, 2009 |
PARK2_000067 |
- |
Y Yang |
./. |
3 |
c.247A>G |
r.(?) |
p.(Thr83Ala) |
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition |
VariO:0021 amino acid substitution |
g.162683722T>C |
Pankratz N, 2009 |
PARK2_000068 |
- |
Y Yang |
./. |
3 |
c.300G>T |
r.(?) |
p.(Gln100His) |
VariO:0136 DNA substitution; VariO:0316 transversion |
VariO:0021 amino acid substitution |
g.162683669C>A |
Chen R, 2003 |
PARK2_000073 |
- |
Y Yang |
./. |
3 |
c.310C>T |
r.(?) |
p.(Arg104Trp) |
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition |
VariO:0021 amino acid substitution |
g.162683659G>A |
Varrone A, 2004;Chaudhary S, 2006 |
PARK2_000074 |
- |
Y Yang |
./. |
3 |
c.337_376del40 |
r.(?) |
p.(Pro113Thrfs*51) |
VariO:0141 DNA deletion |
VariO:0023 amphigoric amino acid indel |
g.162683593_162683632del40 |
Farrer M, 2001;Hedrich K, 2002;Nichols WC, 2002;Foroud T, 2003;Chen R, 2003;Scherfler C, 2004;WIy J, 2004;Poorkaj P, 2004;Hedrich K, 2004;Poorkaj P, 2005;Clark LN, 2006;Sun M, 2006;Wang Y, 2008;Brooks J, 2009;Pankratz N, 2009;Sammler EM, 2009 |
PARK2_000071 |
- |
Y Yang |
./. |
3 |
c.372C>T |
r.(=) |
p.(=) |
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition |
- |
g.162683597G>A |
Chen R, 2003 |
PARK2_000072 |
- |
Y Yang |
./. |
3 |
c.397_399delCCA |
r.(?) |
p.(Pro133del) |
VariO:0141 DNA deletion |
VariO:0016 sequence retaining amino acid deletion |
g.162683570_162683572delTGG |
Hedrich K, 2004 |
PARK2_000065 |
- |
Y Yang |
./. |
3 |
c.428A>G |
r.(?) |
p.(Tyr143Cys) |
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition |
VariO:0021 amino acid substitution |
g.162622269T>C |
Biswas A, 2006 |
PARK2_000066 |
- |
Y Yang |
./. |
4 |
c.434G>A |
r.(?) |
p.(Ser145Asn) |
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition |
VariO:0021 amino acid substitution |
g.162622263C>T |
Varrone A, 2004;Romito LM, 2005 |
PARK2_000052 |
- |
Y Yang |
./. |
4 |
c.458C>G |
r.(?) |
p.(Pro153Arg) |
VariO:0136 DNA substitution; VariO:0316 transversion |
VariO:0021 amino acid substitution |
g.162622239G>C |
Wang Y, 2008;Okubadejo N, 2008;CamRos ST, 2009 |
PARK2_000051 |
- |
Y Yang |
./. |
4 |
c.483A>T |
r.(?) |
p.(Lys161Asn) |
VariO:0136 DNA substitution; VariO:0316 transversion |
VariO:0021 amino acid substitution |
g.162622214T>A |
Abbas N, 1999 |
PARK2_000054 |
- |
Y Yang |
./. |
4 |
c.497G>A |
r.(?) |
p.(Cys166Tyr) |
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition |
VariO:0021 amino acid substitution |
g.162622200C>T |
Brooks J, 2009 |
PARK2_000053 |
- |
Y Yang |
./. |
4 |
c.500G>A |
r.(?) |
p.(Ser167Asn) |
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition |
VariO:0021 amino acid substitution |
g.162622197C>T |
Hattori N, 1998;Wang M, 1999;Satoh J, 1999;Hu CJ, 2000;Mellick GD, 2001;Oliveri RL, 2001;Mata IF, 2002;Eerola J, 2002;Foroud T, 2003 |
PARK2_000002 |
- |
Y Yang |
./. |
4 |
c.500G>A |
r.(?) |
p.(Ser167Asn) |
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition |
VariO:0021 amino acid substitution |
g.162622197C>T |
Gaweda-Walerych K1, Safranow K, Jasinska-Myga B, Bialecka M, Klodowska-Duda G, Rudzinska M, Czyzewski K, Cobb SA, Slawek J, Styczynska M, Opala G,(2012) |
PARK2_000002 |
- |
Y Yang |
./. |
4 |
c.500G>A |
r.(?) |
p.(Ser167Asn) |
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition |
VariO:0021 amino acid substitution |
g.162622197C>T |
Ros R1, Ampuero I, García de Yébenes J.(2008) |
PARK2_000002 |
- |
Y Yang |
./. |
4 |
c.511C>T |
r.(?) |
p.(Gln171*) |
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition |
VariO:0015 protein truncation |
g.162622186G>A |
Brooks J, 2009 |
PARK2_000048 |
- |
Y Yang |
./. |
4 |
c.518C>T |
r.(?) |
p.(Thr173Met) |
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition |
VariO:0021 amino acid substitution |
g.162622179G>A |
Kay DM, 2007;Pankratz N, 2009 |
PARK2_000104 |
- |
Y Yang |
./. |
4 |
c.522C>T |
r.(=) |
p.(=) |
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition |
- |
g.162622175G>A |
Kay DM, 2007;Brooks J, 2009 |
PARK2_000103 |
- |
Y Yang |
./. |
4 |
c.531C>A |
r.(=) |
p.(=) |
VariO:0136 DNA substitution; VariO:0316 transversion |
- |
g.162622166G>T |
Kay DM, 2007 |
PARK2_000034 |
- |
Y Yang |
./. |
4i |
c.534+10T>C |
r.(=) |
p.(=) |
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition |
- |
g.162622153A>G |
Chan DK, 2008 |
PARK2_000023 |
- |
Y Yang |
./. |
4i |
c.535-9T>A |
r.(=) |
p.(=) |
VariO:0136 DNA substitution; VariO:0316 transversion |
- |
g.162475215A>T |
Pankratz N, 2009 |
PARK2_000024 |
- |
Y Yang |
./. |
5 |
c.536delG |
r.(?) |
p.(Gly179Valfs*9) |
VariO:0141 DNA deletion |
VariO:0023 amphigoric amino acid indel |
g.162475205delC |
Hattori N, 1998 |
PARK2_000025 |
- |
Y Yang |
./. |
5 |
c.574A>C |
r.(?) |
p.(Met192Leu) |
VariO:0136 DNA substitution; VariO:0316 transversion |
VariO:0021 amino acid substitution |
g.162475167T>G |
Hedrich K, 2002;Clark LN, 2006;Wang Y, 2008;Okubadejo N, 2008;Sironi F, 2008;Bardien S, 2009;Nuytemans K, 2009 |
PARK2_000026 |
- |
Y Yang |
./. |
5 |
c.574A>G |
r.(?) |
p.(Met192Val) |
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition |
VariO:0021 amino acid substitution |
g.162475167T>C |
Foroud T, 2003;D?chsel JC, 2006;Pankratz N, 2009 |
PARK2_000027 |
- |
Y Yang |
./. |
5 |
c.600C>A |
r.(?) |
p.(His200Gln) |
VariO:0136 DNA substitution; VariO:0316 transversion |
VariO:0021 amino acid substitution |
g.162475141G>T |
Bardien S, 2009 |
PARK2_000028 |
- |
Y Yang |
./. |
5i |
c.618+2T>A |
r.spl? |
p.? |
VariO:0136 DNA substitution; VariO:0316 transversion |
- |
g.162475121A>T |
Scherfler C, 2004 |
PARK2_000029 |
- |
Y Yang |
./. |
6 |
c.633A>T |
r.(?) |
p.(Lys211Asn) |
VariO:0136 DNA substitution; VariO:0316 transversion |
VariO:0021 amino acid substitution |
g.162394435T>A |
van de Warrenburg BP, 2001;Kann M, 2002;Nichols WC, 2002;Foroud T, 2003;Klein C, 2005;Hertz JM, 2006;Aguiar P de C, 2008;Barsottini OG, 2009;Pankratz N, 2009 |
PARK2_000030 |
- |
Y Yang |
./. |
6 |
c.634delT |
r.(?) |
p.(Cys212Valfs*13) |
VariO:0141 DNA deletion |
VariO:0023 amphigoric amino acid indel |
g.162394434delA |
Sironi F, 2008 |
PARK2_000031 |
- |
Y Yang |
./. |
6 |
c.634T>G |
r.(?) |
p.(Cys212Gly) |
VariO:0136 DNA substitution; VariO:0316 transversion |
VariO:0021 amino acid substitution |
g.162394434A>C |
Shyu WC, 2005 |
PARK2_000032 |
- |
Y Yang |
./. |
6 |
c.635G>A |
r.(?) |
p.(Cys212Tyr) |
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition |
VariO:0021 amino acid substitution |
g.162394433C>T |
Pineda-Trujillo N, 2001;Hoenicka J, 2002 |
PARK2_000001 |
- |
Y Yang |
./. |
6 |
c.635G>A |
r.(?) |
p.(Cys212Tyr) |
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition |
VariO:0021 amino acid substitution |
g.162394433C>T |
Morales B1, Martínez A, Gonzalo I, Vidal L, Ros R, Gomez-Tortosa E, Rabano A, Ampuero I, Sánchez M, Hoenicka J, García De Yébenes J.(2002) |
PARK2_000001 |
- |
Y Yang |
./. |
6 |
c.645C>A |
r.(?) |
p.(His215Gln) |
VariO:0136 DNA substitution; VariO:0316 transversion |
VariO:0021 amino acid substitution |
g.162394423G>T |
Pigullo S, 2004 |
PARK2_000012 |
- |
Y Yang |
./. |
6 |
c.688G>A |
r.(?) |
p.(Ala230Thr) |
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition |
VariO:0021 amino acid substitution |
g.162394380C>T |
Sironi F, 2008 |
PARK2_000011 |
- |
Y Yang |
./. |
6 |
c.701G>A |
r.(?) |
p.(Arg234Gln) |
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition |
VariO:0021 amino acid substitution |
g.162394367C>T |
Hertz JM, 2006;Brooks J, 2009;Brooks JA, 2009 |
PARK2_000010 |
- |
Y Yang |
./. |
6 |
c.712delT |
r.(?) |
p.(Cys238Alafs*21) |
VariO:0141 DNA deletion |
VariO:0023 amphigoric amino acid indel |
g.162394356delA |
Guo JF, 2010 |
PARK2_000009 |
- |
Y Yang |
./. |
6 |
c.714C>G |
r.(?) |
p.(Cys238Trp) |
VariO:0136 DNA substitution; VariO:0316 transversion |
VariO:0021 amino acid substitution |
g.162394354G>C |
Sironi F, 2008 |
PARK2_000016 |
- |
Y Yang |
./. |
6 |
c.714C>T |
r.(=) |
p.(=) |
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition |
- |
g.162394354G>A |
Bardien S, 2009 |
PARK2_000015 |
- |
Y Yang |
./. |
6 |
c.719C>G |
r.(?) |
p.(Thr240Arg) |
VariO:0136 DNA substitution; VariO:0316 transversion |
VariO:0021 amino acid substitution |
g.162394349G>C |
Hattori N, 1998 |
PARK2_000014 |
- |
Y Yang |
./. |
6 |
c.719C>G |
r.(?) |
p.(Thr240Arg) |
VariO:0136 DNA substitution; VariO:0316 transversion |
VariO:0021 amino acid substitution |
g.162394349G>C |
Hattori N, 1998 |
PARK2_000014 |
- |
Y Yang |
./. |
6 |
c.719C>T |
r.(?) |
p.(Thr240Met) |
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition |
VariO:0021 amino acid substitution |
g.162394349G>A |
Foroud T, 2003;Periquet M, 2003;Madegowda RH, 2005;Schlitter AM, 2006;Deng H, 2006;Bras J, 2008;Sironi F, 2008;Amboni M, 2009;CamRos ST, 2009;Pankratz N, 2009 |
PARK2_000013 |
- |
Y Yang |
./. |
6 |
c.727G>A |
r.(?) |
p.(Asp243Asn) |
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition |
VariO:0021 amino acid substitution |
g.162394341C>T |
Romito LM, 2005;Brooks J, 2009 |
PARK2_000018 |
- |
Y Yang |
./. |
6 |
c.730G>A |
r.(?) |
p.(Val244Ile) |
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition |
VariO:0021 amino acid substitution |
g.162394338C>T |
Kay DM, 2007 |
PARK2_000017 |
- |
Y Yang |
./. |
7 |
c.758G>A |
r.(?) |
p.(Cys253Tyr) |
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition |
VariO:0021 amino acid substitution |
g.162206917C>T |
Sun M, 2006;Wang Y, 2008;Sironi F, 2008 |
PARK2_000121 |
- |
Y Yang |
./. |
7 |
c.758G>T |
r.(?) |
p.(Cys253Phe) |
VariO:0136 DNA substitution; VariO:0316 transversion |
VariO:0021 amino acid substitution |
g.162206917C>A |
Guo JF, 2008 |
PARK2_000122 |
- |
Y Yang |
./. |
7 |
c.766C>T |
r.(?) |
p.(Arg256Cys) |
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition |
VariO:0021 amino acid substitution |
g.162206909G>A |
Abbas N, 1999;Hedrich K, 2002;Periquet M, 2003;Shyu WC, 2005;Schlitter AM, 2006;Lesage S, 2008;Moro E, 2008;Nuytemans K, 2009;Pankratz N, 2009 |
PARK2_000120 |
- |
Y Yang |
./. |
7 |
c.772G>A |
r.(?) |
p.(Val258Met) |
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition |
VariO:0021 amino acid substitution |
g.162206903C>T |
Shyu WC, 2005 |
PARK2_000118 |
- |
Y Yang |
./. |
7 |
c.783A>G |
r.(=) |
p.(=) |
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition |
- |
g.162206892T>C |
Hedrich K, 2002;Clark LN, 2006;Okubadejo N, 2008;Brüggemann N, 2009 |
PARK2_000119 |
- |
Y Yang |
./. |
7 |
c.794A>G |
r.(?) |
p.(His265Arg) |
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition |
VariO:0021 amino acid substitution |
g.162206881T>C |
Nuytemans K, 2009 |
PARK2_000116 |
- |
Y Yang |
./. |
7 |
c.798_799insA |
r.(?) |
p.(Tyr267Ilefs*8) |
VariO:0142 DNA insertion |
VariO:0023 amphigoric amino acid indel |
g.162206876_162206877insT |
Padmaja MV1, Jayaraman M, Srinivasan AV, Srisailapathy CR, Ramesh A.(2012) |
PARK2_000139 |
- |
Y Yang |
./. |
7 |
c.799T>C |
r.(?) |
p.(Tyr267His) |
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition |
VariO:0021 amino acid substitution |
g.162206876A>G |
Lee MJ, 2009 |
PARK2_000117 |
- |
Y Yang |
./. |
7 |
c.804T>A |
r.(?) |
p.(Cys268*) |
VariO:0136 DNA substitution; VariO:0316 transversion |
VariO:0015 protein truncation |
g.162206871A>T |
Scherfler C, 2004 |
PARK2_000125 |
- |
Y Yang |
./. |
7 |
c.813A>T |
r.(?) |
p.(Arg271Ser) |
VariO:0136 DNA substitution; VariO:0316 transversion |
VariO:0021 amino acid substitution |
g.162206862T>A |
Chen R, 2003 |
PARK2_000126 |
- |
Y Yang |
./. |
7 |
c.814C>A |
r.(?) |
p.(Leu272Ile) |
VariO:0136 DNA substitution; VariO:0316 transversion |
VariO:0021 amino acid substitution |
g.162206861G>T |
Li X, 2005 |
PARK2_000107 |
- |
Y Yang |
./. |
7 |
c.816C>T |
r.(=) |
p.(=) |
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition |
- |
g.162206859G>A |
Chaudhary S, 2006 |
PARK2_000106 |
- |
Y Yang |
./. |
7 |
c.818A>G |
r.(?) |
p.(Asn273Ser) |
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition |
VariO:0021 amino acid substitution |
g.162206857T>C |
Lesage S, 2008;Lesage S, 2008;Nuytemans K, 2009 |
PARK2_000109 |
- |
Y Yang |
./. |
7 |
c.823C>T |
r.(?) |
p.(Arg275Trp) |
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition |
VariO:0021 amino acid substitution |
g.162206852G>A |
Abbas N, 1999;Pramstaller PP, 2002;Hedrich K, 2002;Kann M, 2002;Nichols WC, 2002;Foroud T, 2003;Rawal N, 2003;Periquet M, 2003;Scherfler C, 2004;WIy J, 2004;Hedrich K, 2004;Arias Vásquez A, 2004;Klein C, 2005;Sinha R, 2005;Clark LN, 2006 |
PARK2_000108 |
- |
Y Yang |
./. |
7 |
c.823C>T |
r.(?) |
p.(Arg275Trp) |
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition |
VariO:0021 amino acid substitution |
g.162206852G>A |
Ruffmann C1, Zini M, Goldwurm S, Bramerio M, Spinello S, Rusconi D, Gambacorta M, Tagliavini F, Pezzoli G, Giaccone G.(2012) |
PARK2_000108 |
- |
Y Yang |
./. |
7 |
c.823C>T |
r.(?) |
p.(Arg275Trp) |
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition |
VariO:0021 amino acid substitution |
g.162206852G>A |
Li H1, Yusufujiang A2, Naser S2, Zhu Y3, Maimaiti M2, He X2, Bu J2, Meng X2, Wang M2, Li J2, Dina B2, Yang L2, Nayi Z2, Dang H2, Wang C2, Amiti D2, Aji A2, (2014) |
PARK2_000108 |
- |
Y Yang |
./. |
7 |
c.837C>T |
r.(=) |
p.(=) |
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition |
- |
g.162206838G>A |
Pigullo S, 2004;Macedo MG, 2009 |
PARK2_000111 |
- |
Y Yang |
./. |
7 |
c.838G>A |
r.(?) |
p.(Asp280Asn) |
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition |
VariO:0021 amino acid substitution |
g.162206837C>T |
Scherfler C, 2004;Wang Y, 2008;Bardien S, 2009 |
PARK2_000110 |
- |
Y Yang |
./. |
7 |
c.848T>C |
r.(?) |
p.(Leu283Pro) |
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition |
VariO:0021 amino acid substitution |
g.162206827A>G |
Macedo MG, 2009 |
PARK2_000113 |
- |
Y Yang |
./. |
7 |
c.850G>C |
r.(?) |
p.(Gly284Arg) |
VariO:0136 DNA substitution; VariO:0316 transversion |
VariO:0021 amino acid substitution |
g.162206825C>G |
Wang T, 2004;Wu RM, 2005 |
PARK2_000112 |
- |
Y Yang |
./. |
7 |
c.850G>C |
r.(?) |
p.(Gly284Arg) |
VariO:0136 DNA substitution; VariO:0316 transversion |
VariO:0021 amino acid substitution |
g.162206825C>G |
Li H1, Yusufujiang A2, Naser S2, Zhu Y3, Maimaiti M2, He X2, Bu J2, Meng X2, Wang M2, Li J2, Dina B2, Yang L2, Nayi Z2, Dang H2, Wang C2, Amiti D2, Aji A2, (2014) |
PARK2_000112 |
- |
Y Yang |
./. |
7 |
c.865T>G |
r.(?) |
p.(Cys289Gly) |
VariO:0136 DNA substitution; VariO:0316 transversion |
VariO:0021 amino acid substitution |
g.162206810A>C |
Lesage S, 2008 |
PARK2_000114 |
- |
Y Yang |
./. |
7i |
c.872-3C>G |
r.spl? |
p.? |
VariO:0136 DNA substitution; VariO:0316 transversion |
- |
g.161990451G>C |
Nuytemans K, 2009 |
PARK2_000020 |
- |
Y Yang |
./. |
7i |
c.872-1G>C |
r.spl? |
p.? |
VariO:0136 DNA substitution; VariO:0316 transversion |
- |
g.161990449C>G |
Rawal N, 2003 |
PARK2_000021 |
- |
Y Yang |