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Set Theory
Protein Ranking
nonGIDs
Ranked nonGIDs
Genetics
Parkinson's Disease
There are 140 proteins in the Parkinson's Disease dataset. There were 2 excluded proteins from this dataset, which were:
AAKG2_HUMAN
SYUB_HUMAN
The proteins are listed in alphabetical order with their ranking order number on the right-hand side after the "#" sign. Ranking was worked out by using the number of times that the search term for Parkinson's Disease was mentioned in the protein's datasheet for each protein. The maximum for any protein being 136; for example PRKN_HUMAN, which mentioned the search term 136 times in its datasheet.
AA1R_HUMAN #2
fasta sequenceAA1R_HUMAN protein sequence analysis
inacolorectalcancersample has 1 value
foundinafamilywithearly-onsetautosomal has 1 value
inacolorectalcancersample E170K
foundinafamilywithearly-onsetautosomal G279SACBD6_HUMAN #2
fasta sequenceACBD6_HUMAN protein sequence analysis
inNEDPM has 2 values
inNEDPM D201G
inNEDPM N219NADT1_HUMAN #1
fasta sequenceADT1_HUMAN protein sequence analysis
inMTDPS12A has 2 values
foundinapatientwithmildchildhood-onset has 1 value
inMTDPS12B has 2 values
inPEOA2 has 5 values
foundinapatientwithmildchildhood-onset K33Q
inMTDPS12A R80H
inPEOA2 A90D
inPEOA2 L98P
inPEOA2 D104G
inPEOA2 A114P
inMTDPS12B A123D
inMTDPS12A R235G
inMTDPS12B R236P
inPEOA2 V289MAIMP2_HUMAN #2
fasta sequenceAIMP2_HUMAN protein sequence analysis
inalungcancercellline has 3 values
inalungcancercellline I92V
inalungcancercellline EPT92D
inalungcancercellline G209SANGI_HUMAN #9
fasta sequenceANGI_HUMAN protein sequence analysis
inALS9 has 24 values
foundinapatientwithParkinsondisease has 7 values
inALS9 F12L
inALS9 F12S
foundinapatientwithParkinsondisease V13A
inALS9 G15D
foundinapatientwithParkinsondisease G17D
inALS9 P20Q
inALS9 P20S
inALS9 Q36L
foundinapatientwithParkinsondisease H37R
inALS9 Y38H
inALS9 K41E
inALS9 K41I
inALS9 D46G
foundinapatientwithParkinsondisease D46V
inALS9 S52N
inALS9 R55K
inALS9 C63W
inALS9 K64E
inALS9 K64I
inALS9 I70V
inALS9 K78E
foundinapatientwithParkinsondisease K78R
inALS9 T104S
foundinapatientwithParkinsondisease R119Q
inALS9 F124I
inALS9 V127I
inALS9 P136L
inALS9 V137I
inALS9 H138R
foundinapatientwithParkinsondisease R145C
inALS9 R145HAT10A_HUMAN #1
fasta sequenceAT10A_HUMAN protein sequence analysis
foundinapatientwithautismand has 1 value
foundinapatientwithautismand R208WAT10B_HUMAN #16
fasta sequenceAT10B_HUMAN protein sequence analysis
foundinafamilywithParkinsondisease has 2 values
foundinapatientwithearly-onset has 6 values
foundinpatientswithearly-onsetParkinson has 4 values
impairedATPaseflippaseactivity has 1 value
foundinpatientswithParkinsondisease has 1 value
foundinapatientwithearly-onset N105S
foundinpatientswithearly-onsetParkinson T161N
foundinafamilywithParkinsondisease V219M
impairedATPaseflippaseactivity G393W
foundinafamilywithParkinsondisease I540T
foundinapatientwithearly-onset A558V
foundinpatientswithearly-onsetParkinson G648R
foundinpatientswithearly-onsetParkinson G671R
foundinapatientwithearly-onset V748L
foundinpatientswithearly-onsetParkinson N865K
foundinapatientwithearly-onset E993A
foundinapatientwithearly-onset I1038T
foundinapatientwithearly-onset I1222T
foundinpatientswithParkinsondisease L1421FAT132_HUMAN #53
fasta sequenceAT132_HUMAN protein sequence analysis
inKRS has 11 values
inSPG78 has 2 values
inKRS T12M
inKRS F182L
inKRS I441F
inKRS G504R
inSPG78 T517I
inKRS G522V
inKRS G533R
inKRS A746T
inKRS M854R
inKRS G877R
inSPG78 L927P
inKRS L1059R
inKRS A1069TAT1A3_HUMAN #7
fasta sequenceAT1A3_HUMAN protein sequence analysis
inAHC2andDEE99 has 1 value
inCAPOS has 1 value
inAHC2 has 22 values
inDYT12 has 8 values
inDEE99 has 9 values
foundinapatientwithtonic-clonic has 1 value
inAHC2 S137F
inAHC2 S137Y
inAHC2 Q140L
inAHC2 D220N
inAHC2 I274N
inDYT12 I274T
inDYT12 E277K
inDEE99 L292R
inDEE99 G316V
foundinapatientwithtonic-clonic A320T
inAHC2 V322D
inAHC2 C333F
inDEE99 S361P
inAHC2 L371P
inDEE99 D609Y
inDYT12 T613M
inAHC2 G755C
inAHC2 G755S
inDYT12 I758S
inAHC2 S772R
inAHC2 N773I
inAHC2 N773S
inDEE99 P775R
inDYT12 F780L
inAHC2andDEE99 D801N
inDYT12 D801Y
inAHC2 M806R
inAHC2 I810S
inAHC2 S811P
inAHC2 E815K
inCAPOS E818K
inDEE99 D887Y
inDEE99 L888P
inDEE99 G893W
inDYT12 D923N
inAHC2 D923Y
inDEE99 L924P
inAHC2 C927Y
inAHC2 G947R
inAHC2 A955D
inAHC2 D992Y
inDYT12 Y1013YATX2_HUMAN #3
fasta sequenceATX2_HUMAN protein sequence analysis
ATX2_HUMAN has no polymorphisms
AUXI_HUMAN #16
fasta sequenceAUXI_HUMAN protein sequence analysis
inPARK19B has 1 value
inPARK19B R870GCDK5_HUMAN #5
fasta sequenceCDK5_HUMAN protein sequence analysis
CDK5_HUMAN has no polymorphisms
CHCH2_HUMAN #6
fasta sequenceCHCH2_HUMAN protein sequence analysis
mayinfluenceriskforLewybodydisorders has 7 values
inPARK22 has 2 values
mayinfluenceriskforLewybodydisorders P2L
mayinfluenceriskforLewybodydisorders G4R
mayinfluenceriskforLewybodydisorders P14S
mayinfluenceriskforLewybodydisorders P34L
mayinfluenceriskforLewybodydisorders A37V
mayinfluenceriskforLewybodydisorders A49V
inPARK22 T61I
mayinfluenceriskforLewybodydisorders A93V
inPARK22 R145QCIA30_HUMAN #1
fasta sequenceCIA30_HUMAN protein sequence analysis
inMC1DN11 has 4 values
inMC1DN11 T207P
inMC1DN11 R211C
inMC1DN11 G245R
inMC1DN11 K253RCMPK2_HUMAN #1
fasta sequenceCMPK2_HUMAN protein sequence analysis
inIBGC10 has 1 value
inIBGC10 Y414CCNR1_HUMAN #4
fasta sequenceCNR1_HUMAN protein sequence analysis
CNR1_HUMAN has no polymorphisms
COASY_HUMAN #1
fasta sequenceCOASY_HUMAN protein sequence analysis
inNBIA6 has 2 values
inNBIA6 A214V
inNBIA6 R499CCOQ2_HUMAN #3
fasta sequenceCOQ2_HUMAN protein sequence analysis
inCOQ10D1 has 8 values
inMSA1 has 11 values
inMSA1 F29L
inMSA1 P49H
inCOQ10D1 G53S
inMSA1 S57T
inMSA1 M78V
inCOQ10D1 S96N
inMSA1 I97T
inMSA1 P107S
inMSA1 S113F
inCOQ10D1 M132R
inCOQ10D1 R147H
inCOQ10D1 N178S
inCOQ10D1 Y247C
inCOQ10D1 A252V
inMSA1 T267A
inMSA1 S297C
inMSA1 R337Q
inCOQ10D1 G340A
inMSA1 V343ACPLX1_HUMAN #4
fasta sequenceCPLX1_HUMAN protein sequence analysis
inDEE63 has 1 value
inDEE63 L128MCS012_HUMAN #1
fasta sequenceCS012_HUMAN protein sequence analysis
inNBIA4andSPG43 has 1 value
foundinfamilieswithneurodegeneration has 1 value
inNBIA4 has 14 values
inNBIA4 S28F
inNBIA4 A37P
inNBIA4 G42R
inNBIA4 G47S
inNBIA4 P49L
inNBIA4andSPG43 A52P
inNBIA4 G54E
inNBIA4 G54V
inNBIA4 G58R
inNBIA4 P72L
inNBIA4 Q85P
inNBIA4 R87S
inNBIA4 L110Q
inNBIA4 A123P
foundinfamilieswithneurodegeneration K131E
inNBIA4 T138MDCTN1_HUMAN #4
fasta sequenceDCTN1_HUMAN protein sequence analysis
foundinapatientwithhereditarymotorand has 1 value
noeffectofitsinteractionwithTBCB has 1 value
inPERRYS has 7 values
inHMND14 has 1 value
inALS has 4 values
inPERRYS F52L
inHMND14 G59S
inPERRYS G71A
inPERRYS G71E
inPERRYS G71R
inPERRYS T72P
inPERRYS Q74P
inPERRYS Y78C
noeffectofitsinteractionwithTBCB I196V
inALS M571T
foundinapatientwithhereditarymotorand Y670F
inALS R785W
inALS R1101K
inALS T1249IDDIT4_HUMAN #3
fasta sequenceDDIT4_HUMAN protein sequence analysis
DDIT4_HUMAN has no polymorphisms
DJC13_HUMAN #8
fasta sequenceDJC13_HUMAN protein sequence analysis
inPARK has 4 values
inPARK V722L
inPARK N855S
inPARK R1266Q
inPARK T1895MDPOG1_HUMAN #7
fasta sequenceDPOG1_HUMAN protein sequence analysis
inPEOA1 has 7 values
inLS has 1 value
inPEOB1,MTDPS4A,MTDPS4BandLS has 1 value
inMTDPS4A has 16 values
inPEOA1andMTDPS4A has 1 value
inPEOA1,PEOB1andSANDO has 1 value
foundinapatientwithepileptic has 1 value
inMTDPS4B has 1 value
inPEOB1 has 26 values
inPEOB1andSANDO has 2 values
inPEOB1,SANDO,SCAEandMTDPS4A has 1 value
inSANDOandPEOB1 has 1 value
inSANDO,SCAEandMTDPS4A has 1 value
inPEOB1andMTDPS4A has 1 value
inPEOB1,MTDPS4AandMTDPS4B has 2 values
inSANDOandSCAE has 1 value
inSANDO has 5 values
inPEOB1andMTDPS4B has 1 value
inPEOB1andSANDO R3P
inPEOB1andMTDPS4B R227W
inMTDPS4A R232G
inLS R232H
inMTDPS4A L244P
inPEOB1,MTDPS4AandMTDPS4B T251I
inPEOB1 G268A
foundinapatientwithepileptic R275Q
inPEOB1 H277L
inMTDPS4A G303R
inPEOB1andSANDO L304R
inPEOB1 L304S
inMTDPS4A S305R
inPEOB1 Q308H
inPEOB1 R309L
inPEOB1 W312R
inPEOB1 G380D
inPEOB1 G431V
inPEOB1,SANDO,SCAEandMTDPS4A A467T
inPEOB1 N468D
inSANDOandSCAE Q497H
inPEOA1 S511N
inSANDO G517V
inPEOB1 R562Q
inPEOB1 R574W
inPEOB1 R579W
inPEOB1,MTDPS4AandMTDPS4B P587L
inPEOB1 M603L
inSANDO R627Q
inSANDO R627W
inPEOB1 P648R
inPEOB1 G737R
inSANDO,SCAEandMTDPS4A W748S
inMTDPS4A A767D
inSANDO R807C
inPEOB1 R807P
inPEOA1andMTDPS4A Y831C
inPEOB1,MTDPS4A,MTDPS4BandLS G848S
inMTDPS4A R852C
inPEOB1 R853W
inMTDPS4B N864S
inMTDPS4A Q879H
inMTDPS4A T885S
inPEOB1 A889T
inMTDPS4A T914P
inPEOA1 G923D
inSANDOandPEOB1 H932Y
inPEOB1 R943C
inPEOA1 R943H
inPEOA1 R953C
inPEOA1,PEOB1andSANDO Y955C
inMTDPS4A A957P
inPEOA1 A957S
inMTDPS4A L966R
inPEOB1 R1047Q
inSANDO G1051R
inPEOB1 G1076V
inPEOB1andMTDPS4A R1096C
inMTDPS4A R1096H
inPEOB1 S1104C
inPEOB1 A1105T
inPEOB1 V1106I
inMTDPS4A H1110Y
inMTDPS4A H1134R
inMTDPS4A E1136K
inPEOB1 R1146C
inPEOA1 S1176L
inPEOB1 D1184N
inPEOA1 D1186H
inMTDPS4A K1191NDPOG2_HUMAN #1
fasta sequenceDPOG2_HUMAN protein sequence analysis
inPEOA4 has 1 value
inMTDPS16 has 1 value
inMTDPS16B has 1 value
nofunctionaldeficit has 1 value
inMTDPS16 R182W
nofunctionaldeficit G416A
inMTDPS16B D433Y
inPEOA4 G451EFBX7_HUMAN #25
fasta sequenceFBX7_HUMAN protein sequence analysis
inPARK15 has 2 values
foundintwopatientswithKufor-Rakeb has 1 value
inPARK15 L34R
inPARK15 R378G
foundintwopatientswithKufor-Rakeb R481CFGF20_HUMAN #12
fasta sequenceFGF20_HUMAN protein sequence analysis
FGF20_HUMAN has no polymorphisms
FMT_HUMAN #1
fasta sequenceFMT_HUMAN protein sequence analysis
inCOXPD15 has 1 value
inCOXPD15andMC1DN27 has 1 value
inCOXPD15 S125L
inCOXPD15andMC1DN27 S209LFRIL_HUMAN #1
fasta sequenceFRIL_HUMAN protein sequence analysis
inNBIA3 has 1 value
inHRFTC has 1 value
inHRFTC T30I
inNBIA3 A96TFXRD1_HUMAN #1
fasta sequenceFXRD1_HUMAN protein sequence analysis
inMC1DN19 has 2 values
inMC1DN19 R352W
inMC1DN19 N430SGBA1_HUMAN #33
fasta sequenceGBA1_HUMAN protein sequence analysis
inGD1andGD2 has 12 values
inGD1andGD3 has 5 values
inGDandGD2 has 1 value
inGD3 has 8 values
inGD2andGD3 has 1 value
foundinapatientwithParkinsondisease has 2 values
inGDPL,GD1andGD2 has 1 value
inGD1,GD2,GD3andGD3C has 1 value
inGDPL has 2 values
inGD1,GD2andGD3 has 4 values
inGDandGD3 has 1 value
inGD has 37 values
inGD1 has 79 values
likelybenign has 1 value
inGDandGD1 has 2 values
inGD2 has 16 values
foundinapatientwithParkinsondisease K46E
inGD V54L
inGD C55S
inGD1 C62W
inGD1 D63N
inGD F76V
inGD2 E80K
inGD1 T82I
inGD G85E
inGD1 R87Q
inGD1 R87W
inGD1 K118N
inGD1 F120L
inGD1 A129T
inGD2andGD3 S146L
inGD3 Y147C
inGD1 G152E
inGD1 Y155H
inGD1 N156D
inGD1 I158S
inGD1 I158T
inGD1andGD2 R159Q
inGD1andGD2 R159W
inGD P161L
inGD1 P161S
inGD M162V
inGD D166V
inGD1andGD2 R170C
inGD1andGD2 R170L
inGD1 T173I
inGD1 T173P
inGD1 Y174S
inGD A175E
inGD1 D179H
inGD1 K196Q
inGD P198L
inGD1 P198S
inGD1 P198T
inGD I200N
inGD1 I200S
inGD1 H201P
inGD1 R209C
inGD1 R209P
inGD L213F
inGD1 L214P
inGD1 A215D
inGD2 P217S
inGD1 P221L
inGD1 P221T
inGD1andGD2 W223R
inGD L224F
inGD2 N227I
inGD1andGD2 N227K
inGD1andGD3 N227S
inGD G228V
inGD2 A229E
inGD3 A229T
inGD1 V230E
inGD1 V230G
inGD G232E
inGD1 G234E
inGD G234W
inGD1andGD2 S235P
inGD2 K237E
inGD1,GD2andGD3 G241R
inGD1andGD3 Y244C
inGD Y251H
inGD1,GD2andGD3 F252I
inGD F255Y
inGD1 F266L
inGD1 T270I
inGD2 T270R
inGD2 E274K
inGD1 S276P
inGD1 P284T
inGD1 G289V
inGDPL F290L
inGD1,GD2andGD3 H294Q
inGD1andGD2 R296Q
inGDandGD2 F298L
inGD1 R301G
inGD L303I
inGD1 G304D
inGD3 G304R
inGD1 P305R
inGD1 S310N
inGD1 D322N
inGD1andGD3 R324C
inGD1andGD2 R324H
inGD1 P328L
inGD1 K342I
inGD2 Y343C
inGD1 I347S
inGD1 A348V
inGDPL,GD1andGD2 H350R
inGD1 W351C
inGD1 W351S
inGD Y352H
inGD1 D354H
inGD1 A357D
inGD1 T362I
inGD1 L363P
inGD2 G364R
inGD1 E365K
inGD1 A380T
inGD2 C381G
inGD E388K
inGD1 V391L
inGDandGD3 R392G
inGD R392W
inGD1 R398Q
inGD2 M400I
inGD Y402C
inGD1 S403T
inGD S405G
inGD S405N
inGD1 S405R
inGD1 T408M
inGD1 N409S
inGD L410V
inGDandGD1 V414L
inGD1andGD3 G416S
inGD1 W417G
foundinapatientwithParkinsondisease D419A
inGD D419H
inGD1 D419N
inGD1 W420C
inGD N421K
inGD P426L
inGD2 G428E
inGD G429R
inGD1 P430L
inGD2 N431I
inGD W432R
inGD1andGD3 V433L
inGD1 N435T
inGD F436S
inGDPL V437F
inGD3 V437L
inGD1andGD2 D438N
inGD1 D438Y
inGD1 P440L
inGD3 I441F
inGD I441T
inGD1,GD2,GD3andGD3C D448H
inGD3 D448V
inGD1 F450I
inGD1 Y451H
inGD K452Q
inGD2 P454R
inGD M455V
inGD1 F456V
inGDandGD1 Y457C
inGD1 G460D
inGD3 K464E
likelybenign D482N
inGD1,GD2andGD3 L483P
inGD1andGD2 L483R
inGD1 A485P
inGD1 V486E
inGD1 H490R
inGD1 A495P
inGD L500P
inGD2 N501K
inGD1 N501Y
inGD1andGD2 R502C
inGD R502P
inGD2 D513Y
inGD G517S
inGD1 T521K
inGD3 T530I
inGD1 R535C
inGD1 R535HGGYF2_HUMAN #31
fasta sequenceGGYF2_HUMAN protein sequence analysis
probableriskfactorforPARK11 has 5 values
inPARK11 has 14 values
probableriskfactorforPARK11 N56S
inPARK11 T112A
inPARK11 E256K
inPARK11 S273C
probableriskfactorforPARK11 I278V
inPARK11 S335T
inPARK11 A345V
inPARK11 D349E
inPARK11 S377Y
probableriskfactorforPARK11 N457T
inPARK11 P473S
inPARK11 E492K
inPARK11 H519Y
inPARK11 L580F
probableriskfactorforPARK11 R589G
probableriskfactorforPARK11 D606E
inPARK11 D1070H
inPARK11 L1209P
inPARK11 V1242IGPR37_HUMAN #16
fasta sequenceGPR37_HUMAN protein sequence analysis
GPR37_HUMAN has no polymorphisms
GRN_HUMAN #1
fasta sequenceGRN_HUMAN protein sequence analysis
inFTD2 has 1 value
inFTD2 A9DHRH2_HUMAN #1
fasta sequenceHRH2_HUMAN protein sequence analysis
HRH2_HUMAN has no polymorphisms
HTRA2_HUMAN #27
fasta sequenceHTRA2_HUMAN protein sequence analysis
maybeariskfactorforParkinsondisease has 2 values
inMGCA8 has 2 values
inPARK13 has 1 value
maybeariskfactorforParkinsondisease A141S
inMGCA8 LP227P
maybeariskfactorforParkinsondisease G399S
inMGCA8 R404Q
inPARK13 R404WIF4G1_HUMAN #27
fasta sequenceIF4G1_HUMAN protein sequence analysis
inacolorectalcancersample has 1 value
foundinapatientwithRettsyndrome-like has 1 value
foundinapatientwithParkinsondisease has 2 values
foundinpatientswithParkinsondisease has 1 value
inPARK18 has 2 values
foundinapatientwithRettsyndrome-like R201H
inPARK18 A502V
foundinpatientswithParkinsondisease G686C
inacolorectalcancersample P696L
foundinapatientwithParkinsondisease S1164R
foundinapatientwithParkinsondisease R1197W
inPARK18 R1205HJAM2_HUMAN #1
fasta sequenceJAM2_HUMAN protein sequence analysis
inIBGC8 has 2 values
inIBGC8 R108H
inIBGC8 W168CKLK6_HUMAN #2
fasta sequenceKLK6_HUMAN protein sequence analysis
KLK6_HUMAN has no polymorphisms
LIGO1_HUMAN #2
fasta sequenceLIGO1_HUMAN protein sequence analysis
inMRT64 has 2 values
inMRT64 Y288C
inMRT64 R290HLRRK2_HUMAN #127
fasta sequenceLRRK2_HUMAN protein sequence analysis
lossofkinaseactivityandabilityto has 1 value
inanovarianserouscarcinomasample has 1 value
inPARK8 has 33 values
inanovarianmucinouscarcinomasample has 1 value
foundinarenalcellcarcinomasample has 1 value
inPARK8 M712V
inPARK8 R793M
inPARK8 Q930R
inPARK8 R1067Q
inPARK8 S1096C
inPARK8 I1122V
inPARK8 S1228T
foundinarenalcellcarcinomasample K1359I
inPARK8 I1371V
inPARK8 R1441C
inPARK8 R1441G
inPARK8 R1441H
inPARK8 R1514Q
inPARK8 P1542S
inanovarianmucinouscarcinomasample R1550Q
inPARK8 V1598E
inPARK8 R1628P
inPARK8 Y1699C
inanovarianserouscarcinomasample R1723P
inPARK8 R1728H
inPARK8 R1728L
inPARK8 M1869T
lossofkinaseactivityandabilityto K1906M
inPARK8 R1941H
inPARK8 I2012T
inPARK8 G2019S
inPARK8 I2020T
inPARK8 T2031S
inPARK8 T2141M
inPARK8 R2143H
inPARK8 D2175H
inPARK8 Y2189C
inPARK8 T2356I
inPARK8 G2385R
inPARK8 V2390M
inPARK8 L2439I
inPARK8 L2466HMECP2_HUMAN #1
fasta sequenceMECP2_HUMAN protein sequence analysis
inENS-MECP2 has 1 value
inMRXS13 has 8 values
inRTT has 40 values
foundinapatientwithdrug-resistant has 1 value
inRTT E10Q
inRTT D97E
inRTT D97Y
inRTT L100R
inRTT L100V
inRTT P101H
inRTT P101L
inRTT P101R
inRTT P101S
inRTT P101T
inRTT R106Q
inRTT R106W
inRTT R111G
inRTT Y120D
inRTT L124F
inRTT Q128P
inRTT R133C
inRTT R133H
inRTT S134C
inRTT K135E
inMRXS13 E137G
inMRXS13 A140V
inRTT P152R
inRTT F155I
inRTT F155S
inRTT D156G
inRTT T158A
inRTT T158M
inRTT G161V
inMRXS13 R167W
inRTT K210I
inMRXS13 P225L
inRTT P225R
inMRXS13 K284E
inRTT P302A
inRTT P302H
inRTT P302L
inRTT P302R
foundinapatientwithdrug-resistant K305N
inRTT K305R
inRTT R306C
inRTT R306H
inRTT P322A
inRTT P322L
inMRXS13 P322S
inRTT R344W
inRTT P388S
inMRXS13 P399L
inENS-MECP2 G428S
inMRXS13 R453QMYORG_HUMAN #1
fasta sequenceMYORG_HUMAN protein sequence analysis
inIBGC7 has 17 values
inIBGC7 M35V
inIBGC7 G64E
inIBGC7 L113R
inIBGC7 R116R
inIBGC7 W229C
inIBGC7 S232L
inIBGC7 A236A
inIBGC7 W249C
inIBGC7 R261L
inIBGC7 A373D
inIBGC7 D434H
inIBGC7 R441G
inIBGC7 T476N
inIBGC7 R611W
inIBGC7 L622P
inIBGC7 I656T
inIBGC7 L660QNAA60_HUMAN #1
fasta sequenceNAA60_HUMAN protein sequence analysis
inIBGC9 has 4 values
inIBGC9 L17R
inIBGC9 R44C
inIBGC9 H131Y
inIBGC9 N143TNDUA1_HUMAN #1
fasta sequenceNDUA1_HUMAN protein sequence analysis
inMC1DN12 has 2 values
inacolorectalcancersample has 1 value
inMC1DN12 G8R
inMC1DN12 R37S
inacolorectalcancersample R53CNDUA2_HUMAN #1
fasta sequenceNDUA2_HUMAN protein sequence analysis
inabreastcancersample has 1 value
inabreastcancersample D50NNDUA6_HUMAN #1
fasta sequenceNDUA6_HUMAN protein sequence analysis
inMC1DN33 has 1 value
inMC1DN33 R64PNDUA8_HUMAN #1
fasta sequenceNDUA8_HUMAN protein sequence analysis
inabreastcancersample has 1 value
inMC1DN37 has 2 values
inMC1DN37 R47C
inMC1DN37 R98L
inabreastcancersample N140HNDUA9_HUMAN #1
fasta sequenceNDUA9_HUMAN protein sequence analysis
inMC1DN26 has 2 values
inMC1DN26 R321P
inMC1DN26 R360CNDUAA_HUMAN #1
fasta sequenceNDUAA_HUMAN protein sequence analysis
inMC1DN22 has 2 values
inMC1DN22 Q142R
inMC1DN22 L294PNDUAB_HUMAN #1
fasta sequenceNDUAB_HUMAN protein sequence analysis
NDUAB_HUMAN has no polymorphisms
NDUAC_HUMAN #1
fasta sequenceNDUAC_HUMAN protein sequence analysis
NDUAC_HUMAN has no polymorphisms
NDUAD_HUMAN #6
fasta sequenceNDUAD_HUMAN protein sequence analysis
inMC1DN28 has 1 value
inaHurthlecellvariantofpapillary has 2 values
inaHurthlecellvariantofpapillary K5N
inMC1DN28 R57H
inaHurthlecellvariantofpapillary R115PNDUB3_HUMAN #1
fasta sequenceNDUB3_HUMAN protein sequence analysis
inMC1DN25 has 1 value
inMC1DN25 W22RNDUB7_HUMAN #1
fasta sequenceNDUB7_HUMAN protein sequence analysis
NDUB7_HUMAN has no polymorphisms
NDUB8_HUMAN #1
fasta sequenceNDUB8_HUMAN protein sequence analysis
inMC1DN32 has 3 values
inMC1DN32 Y62H
inMC1DN32 P76Q
inMC1DN32 C144WNDUB9_HUMAN #1
fasta sequenceNDUB9_HUMAN protein sequence analysis
inMC1DN24 has 1 value
inMC1DN24 L64PNDUBA_HUMAN #1
fasta sequenceNDUBA_HUMAN protein sequence analysis
inMC1DN35 has 1 value
inMC1DN35 C107SNDUBB_HUMAN #1
fasta sequenceNDUBB_HUMAN protein sequence analysis
inMC1DN30 has 1 value
inMC1DN30 E121KNDUC2_HUMAN #1
fasta sequenceNDUC2_HUMAN protein sequence analysis
inMC1DN36 has 1 value
inMC1DN36 H58YNDUF2_HUMAN #1
fasta sequenceNDUF2_HUMAN protein sequence analysis
NDUF2_HUMAN has no polymorphisms
NDUF3_HUMAN #1
fasta sequenceNDUF3_HUMAN protein sequence analysis
inMC1DN18 has 3 values
inMC1DN18 G77R
inMC1DN18 R122P
inMC1DN18 A165VNDUF4_HUMAN #1
fasta sequenceNDUF4_HUMAN protein sequence analysis
inMC1DN15 has 2 values
inMC1DN15 A3P
inMC1DN15 L65PNDUF5_HUMAN #1
fasta sequenceNDUF5_HUMAN protein sequence analysis
inMC1DN16 has 3 values
inMC1DN16 L159F
inMC1DN16 L229P
inMC1DN16 G250VNDUF6_HUMAN #1
fasta sequenceNDUF6_HUMAN protein sequence analysis
inMC1DN17 has 7 values
inMC1DN17 D69V
inMC1DN17 S76P
inMC1DN17 Q99R
inMC1DN17 I124T
inMC1DN17 A178P
inMC1DN17 H269D
inMC1DN17 R274GNDUF8_HUMAN #1
fasta sequenceNDUF8_HUMAN protein sequence analysis
inMC1DN34 has 1 value
inMC1DN34 F55LNDUS1_HUMAN #1
fasta sequenceNDUS1_HUMAN protein sequence analysis
inMC1DN5 has 3 values
inMC1DN5 V228A
inMC1DN5 R241W
inMC1DN5 D252GNDUS2_HUMAN #2
fasta sequenceNDUS2_HUMAN protein sequence analysis
inLHONAR2 has 2 values
inMC1DN6 has 4 values
inLHONAR2 Y53C
inMC1DN6 R228Q
inMC1DN6 P229Q
inLHONAR2 Y308C
inMC1DN6 S413P
inMC1DN6 D446NNDUS3_HUMAN #1
fasta sequenceNDUS3_HUMAN protein sequence analysis
inMC1DN8 has 3 values
inMC1DN8 R140W
inMC1DN8 T145I
inMC1DN8 R199WNDUS4_HUMAN #1
fasta sequenceNDUS4_HUMAN protein sequence analysis
inMC1DN1 has 1 value
inMC1DN1 D119HNDUS6_HUMAN #1
fasta sequenceNDUS6_HUMAN protein sequence analysis
inMC1DN9 has 1 value
inMC1DN9 C115YNDUS7_HUMAN #1
fasta sequenceNDUS7_HUMAN protein sequence analysis
inMC1DN3 has 1 value
foundinapatientwithLeighsyndrome has 1 value
inMC1DN3 V122M
foundinapatientwithLeighsyndrome R145HNDUS8_HUMAN #1
fasta sequenceNDUS8_HUMAN protein sequence analysis
inMC1DN2 has 8 values
inMC1DN2 R18C
inMC1DN2 E63Q
inMC1DN2 R77W
inMC1DN2 P79L
inMC1DN2 P85L
inMC1DN2 R102H
inMC1DN2 R138H
inMC1DN2 A159DNDUV1_HUMAN #1
fasta sequenceNDUV1_HUMAN protein sequence analysis
inMC1DN4 has 3 values
inMC1DN4 E214K
inMC1DN4 A341V
inMC1DN4 T423MNDUV2_HUMAN #1
fasta sequenceNDUV2_HUMAN protein sequence analysis
NDUV2_HUMAN has no polymorphisms
NGBR_HUMAN #1
fasta sequenceNGBR_HUMAN protein sequence analysis
inCDG1AA has 1 value
foundinapatientwithParkinson'sdisease has 1 value
foundinapatientwithParkinson'sdisease G91C
inCDG1AA R290HNR4A2_HUMAN #17
fasta sequenceNR4A2_HUMAN protein sequence analysis
inIDLDP has 6 values
inIDLDP C280Y
inIDLDP F286S
inIDLDP C305Y
inIDLDP R319Q
inIDLDP C323F
inIDLDP D392GNU3M_HUMAN #1
fasta sequenceNU3M_HUMAN protein sequence analysis
inMC1DM1 has 2 values
inLSandMC1DM1 has 1 value
inLS has 1 value
inLS Q26K
inMC1DM1 S34P
inMC1DM1 S45P
inLSandMC1DM1 A47TNUBPL_HUMAN #1
fasta sequenceNUBPL_HUMAN protein sequence analysis
foundinapatientwithmitochondrial has 1 value
inMC1DN21 has 2 values
foundinapatientwithmitochondrial G56R
inMC1DN21 D105Y
inMC1DN21 L193FPACRG_HUMAN #15
fasta sequencePACRG_HUMAN protein sequence analysis
PACRG_HUMAN has no polymorphisms
PARK7_HUMAN #105
fasta sequencePARK7_HUMAN protein sequence analysis
inPARK7 has 7 values
foundinearly-onsetParkinsondiseasewith has 1 value
inPARK7 L10P
inPARK7 M26I
foundinearly-onsetParkinsondiseasewith A39S
inPARK7 E64D
inPARK7 A104T
inPARK7 D149A
inPARK7 E163K
inPARK7 L166PPAWR_HUMAN #1
fasta sequencePAWR_HUMAN protein sequence analysis
PAWR_HUMAN has no polymorphisms
PCS1N_HUMAN #3
fasta sequencePCS1N_HUMAN protein sequence analysis
PCS1N_HUMAN has no polymorphisms
PDE8B_HUMAN #1
fasta sequencePDE8B_HUMAN protein sequence analysis
inPPNAD3 has 1 value
inPPNAD3 H305PPDGFB_HUMAN #1
fasta sequencePDGFB_HUMAN protein sequence analysis
inIBGC5 has 2 values
inIBGC5 L9R
inIBGC5 L119PPEO1_HUMAN #1
fasta sequencePEO1_HUMAN protein sequence analysis
inPEO has 1 value
inPRLTS5 has 4 values
inPEOA3 has 29 values
inMTDPS7 has 5 values
inPEOA3 R303Q
inPEOA3 R303W
inPEOA3 W315L
inPEOA3 W315S
inMTDPS7 A318T
inPEOA3 K319E
inPEOA3 K319T
inPEOA3 R334P
inPEO R334Q
inPEOA3 P335L
inPEOA3 R354P
inPEOA3 R357P
inPEOA3 A359T
inMTDPS7 L360G
inPEOA3 A362P
inPEOA3 W363L
inPEOA3 I367T
inPEOA3 S369P
inPEOA3 S369Y
inPEOA3 F370C
inPEOA3 F370L
inPEOA3 R374Q
inPEOA3 L381P
inPRLTS5 R391H
inPEOA3 S426N
inPRLTS5 W441G
inMTDPS7 L456V
inMTDPS7 T457I
inPEOA3 Q458H
inPEOA3 A460P
inPEOA3 W474C
inPEOA3 W474S
inPEOA3 A475D
inPEOA3 A475P
inPEOA3 F478I
inPEOA3 E479K
inPRLTS5 V507I
inMTDPS7 Y508C
inPRLTS5 N585SPGFRB_HUMAN #1
fasta sequencePGFRB_HUMAN protein sequence analysis
inOPDKD has 1 value
inabreastinfiltratingductalcarcinoma has 1 value
inIMF1 has 2 values
inagastricadenocarcinomasample has 1 value
inPENTT has 2 values
inKOGS has 1 value
inIBGC4 has 3 values
inIMF1 R561C
inKOGS P584R
inagastricadenocarcinomasample Y589H
inIBGC4 L658P
inIMF1 P660T
inPENTT V665A
inPENTT N666S
inOPDKD N666Y
inabreastinfiltratingductalcarcinoma T882I
inIBGC4 R987W
inIBGC4 E1071VPGK1_HUMAN #1
fasta sequencePGK1_HUMAN protein sequence analysis
inPGK1D has 9 values
inMunchen has 1 value
inPGK1D L88P
inPGK1D G158V
inPGK1D D164V
inPGK1D R206P
inPGK1D E252A
inPGK1D V266M
inMunchen D268N
inPGK1D D285V
inPGK1D D315N
inPGK1D C316RPIEZ1_HUMAN #1
fasta sequencePIEZ1_HUMAN protein sequence analysis
inLMPHM6 has 4 values
foundinapatientwithprunebelly has 2 values
inDHS1 has 13 values
foundinEr has 5 values
foundinapatientwithprunebelly G253R
inDHS1 G718S
inDHS1 G782S
inDHS1 R808Q
inLMPHM6 L939M
inDHS1 S1117L
inDHS1 R1358P
inDHS1 A2003D
inDHS1 A2020T
inDHS1 A2020V
inDHS1 T2127M
foundinapatientwithprunebelly S2195L
inDHS1 M2225R
foundinEr R2245Q
foundinEr E2392K
foundinEr G2394S
foundinEr E2407K
foundinEr E2407Q
inLMPHM6 P2430L
inLMPHM6 R2456C
inDHS1 R2456H
inLMPHM6 F2458L
inDHS1 R2488Q
inDHS1 E2496EPINK1_HUMAN #95
fasta sequencePINK1_HUMAN protein sequence analysis
foundinearly-onsetParkinsondiseasewith has 1 value
underdepolarizingconditions,doesnot has 1 value
inPARK6 has 26 values
foundinapatientwithParkinsondisease has 1 value
noeffectoninteractionwithTIMM23 has 5 values
maypredisposetoParkinsondisease has 5 values
inaglioblastomamultiformesample has 1 value
severelydecreasedinteractionwithTIMM23 has 2 values
inPARK6 P52L
noeffectoninteractionwithTIMM23 L67F
noeffectoninteractionwithTIMM23 R68P
severelydecreasedinteractionwithTIMM23 A78V
inPARK6 C92F
severelydecreasedinteractionwithTIMM23 R98W
foundinapatientwithParkinsondisease I111S
underdepolarizingconditions,doesnot Q115L
noeffectoninteractionwithTIMM23 A124V
inPARK6 C125G
inPARK6 Q126P
noeffectoninteractionwithTIMM23 T145M
inPARK6 R147H
noeffectoninteractionwithTIMM23 L148W
inPARK6 A168P
inPARK6 V170G
inPARK6 P196L
inaglioblastomamultiformesample P215L
inPARK6 A217D
inPARK6 E240K
inPARK6 L268V
inPARK6 H271Q
inPARK6 R279H
inPARK6 A280T
inPARK6 G309D
inPARK6 T313M
inPARK6 L347P
inPARK6 L369P
inPARK6 G386A
inPARK6 C388R
foundinearly-onsetParkinsondiseasewith P399L
inPARK6 R407Q
inPARK6 G409V
inPARK6 E417G
maypredisposetoParkinsondisease Y431H
maypredisposetoParkinsondisease N451S
inPARK6 R464H
maypredisposetoParkinsondisease E476K
inPARK6 L489P
maypredisposetoParkinsondisease R501P
inPARK6 Q534Q
maypredisposetoParkinsondisease C575RPLPL9_HUMAN #6
fasta sequencePLPL9_HUMAN protein sequence analysis
inNBIA2B has 2 values
inPARK14 has 2 values
inNBIA2A has 8 values
inNBIA2A V310E
inNBIA2A A341T
inNBIA2A I366N
inNBIA2A D484G
inNBIA2A G517C
inNBIA2B K545T
inNBIA2B R632W
inNBIA2A G638R
inNBIA2A T661M
inPARK14 R741Q
inNBIA2A R741W
inPARK14 R747WPRIO_HUMAN #1
fasta sequencePRIO_HUMAN protein sequence analysis
inGSDandearly-onsetdementia has 1 value
inschizoaffectivedisorder has 1 value
inearly-onsetdementiaanddementiadueto has 1 value
inGSD has 7 values
inSENFandearly-onsetdementia has 1 value
linkedtodevelopmentofdementing has 1 value
protectivefactoragainstacquired,sporadic has 1 value
inFFIandCJD has 1 value
confersrelativeprotectionagainstsporadic has 1 value
protectivefactoragainstKuru has 1 value
inCJD has 8 values
inGSDandearly-onsetdementia P102L
inGSD P105L
linkedtodevelopmentofdementing A117V
protectivefactoragainstKuru G127V
protectivefactoragainstacquired,sporadic M129V
inGSD G131V
inschizoaffectivedisorder N171S
inFFIandCJD D178N
inCJD V180I
inSENFandearly-onsetdementia T183A
inGSD H187R
inearly-onsetdementiaanddementiadueto T188K
inCJD E196K
inGSD F198S
inCJD E200K
inGSD D202N
inCJD V203I
inCJD R208H
inCJD V210I
inCJD E211Q
inGSD Q212P
inGSD Q217R
confersrelativeprotectionagainstsporadic E219K
inCJD M232RPRKN_HUMAN #136
fasta sequencePRKN_HUMAN protein sequence analysis
inPARK2 has 25 values
inPARK has 2 values
inapatientwithParkinsondisease has 2 values
inPARK2andPARK has 3 values
inPARK2 V15M
inPARK2 R33Q
inPARK2 P37L
inPARK2andPARK R42P
inPARK2 A46P
inPARK2 V56E
inPARK2 A82E
inPARK2 A92V
inPARK2 K161N
inPARK2 M192L
inPARK2 M192V
inPARK2 K211N
inPARK2 C212Y
inPARK2 T240M
inPARK2 T240R
inPARK C253Y
inPARK2andPARK R256C
inPARK2andPARK R275W
inPARK D280N
inPARK2 G284R
inPARK2 C289G
inapatientwithParkinsondisease Q311R
inPARK2 G328E
inPARK2 T351P
inapatientwithParkinsondisease A371T
inPARK2 R402C
inPARK2 T415N
inPARK2 C418R
inPARK2 G430D
inPARK2 C431F
inPARK2 P437L
inPARK2 C441RPRKRA_HUMAN #4
fasta sequencePRKRA_HUMAN protein sequence analysis
inDYT16 has 1 value
inDYT16 P222LPSN1_HUMAN #2
fasta sequencePSN1_HUMAN protein sequence analysis
foundinarenalcellcarcinomasample has 1 value
foundinpatientswithlate-onsetAlzheimer has 1 value
inPIDBandAD3 has 1 value
inCMD1U has 1 value
foundinapatientwithdementia has 1 value
inAD3 has 123 values
inFTD1 has 1 value
inAD3 R35Q
inAD3 A79V
inAD3 V82L
inAD3 I83T
inAD3 L85P
inAD3 V89L
inAD3 C92S
inAD3 V94M
inAD3 V96F
inAD3 V97L
inAD3 F105L
inFTD1 L113P
inAD3 Y115C
inAD3 Y115H
inAD3 T116I
inAD3 T116N
inAD3 P117L
inAD3 P117S
inAD3 E120D
inAD3 E120K
inAD3 L134R
inAD3 N135D
inAD3 M139I
inAD3 M139K
inAD3 M139T
inAD3 M139V
inAD3 V142F
inAD3 I143F
inAD3 I143T
inAD3 M146I
inAD3 M146L
inAD3 M146V
inAD3 T147I
inAD3 L153V
inAD3 Y154C
inAD3 Y154N
inAD3 Y156F
inAD3 Y159F
inAD3 H163R
inAD3 H163Y
inAD3 W165C
inAD3 L166P
inAD3 S169L
inAD3 S169P
inAD3 S170F
inAD3 L171P
inAD3 L173W
inAD3 L174M
inAD3 F177L
inAD3 F177S
inAD3 S178P
inPIDBandAD3 G183V
inAD3 E184D
inAD3 G206A
inAD3 G206D
inAD3 G206S
inAD3 G209E
inAD3 G209R
inAD3 G209V
inAD3 I213L
inAD3 I213T
foundinapatientwithdementia H214Y
inAD3 G217R
inAD3 L219P
inAD3 Q222R
inAD3 I229F
inAD3 A231T
inAD3 A231V
inAD3 M233L
inAD3 M233T
inAD3 L235P
inAD3 L235R
inAD3 L235V
inAD3 F237I
inAD3 F237L
inAD3 A246E
inAD3 L250S
inAD3 A260V
inAD3 V261F
inAD3 L262F
inAD3 L262V
inAD3 C263F
inAD3 C263R
inAD3 P264L
inAD3 G266S
inAD3 P267S
inAD3 R269G
inAD3 R269H
inAD3 L271V
inAD3 T274R
inAD3 A275V
inAD3 R278I
inAD3 R278T
inAD3 E280A
inAD3 E280G
inAD3 L282R
inAD3 L282V
inAD3 A285V
inAD3 L286V
inAD3 S289C
foundinpatientswithlate-onsetAlzheimer K311R
foundinarenalcellcarcinomasample Y315C
inCMD1U D333G
inAD3 R352R
inAD3 T354I
inAD3 R358Q
inAD3 S365Y
inAD3 R377M
inAD3 G378E
inAD3 G378V
inAD3 L381F
inAD3 L381V
inAD3 G384A
inAD3 S390I
inAD3 L392V
inAD3 G394V
inAD3 A396T
inAD3 N405S
inAD3 I408T
inAD3 A409T
inAD3 C410Y
inAD3 G417A
inAD3 L418F
inAD3 A426P
inAD3 A431E
inAD3 L435F
inAD3 P436Q
inAD3 P436S
inAD3 I439VPTPA_HUMAN #7
fasta sequencePTPA_HUMAN protein sequence analysis
inPARK25 has 2 values
inPARK25 A171D
inPARK25 M298RPTRD1_HUMAN #8
fasta sequencePTRD1_HUMAN protein sequence analysis
inNEDPBA has 4 values
inNEDPBA C52Y
inNEDPBA H53Y
inNEDPBA R122Q
inNEDPBA R122WQCR1_HUMAN #5
fasta sequenceQCR1_HUMAN protein sequence analysis
inPKNPY has 2 values
inPKNPY I311L
inPKNPY Y314SRAB32_HUMAN #20
fasta sequenceRAB32_HUMAN protein sequence analysis
riskfactorforPARK26 has 1 value
riskfactorforPARK26 S71RRB39B_HUMAN #13
fasta sequenceRB39B_HUMAN protein sequence analysis
inWSMN has 2 values
inWSMN T168K
inWSMN G192RRENR_HUMAN #5
fasta sequenceRENR_HUMAN protein sequence analysis
inCDG2R has 2 values
inCDG2R R71H
inCDG2R L98SREST_HUMAN #2
fasta sequenceREST_HUMAN protein sequence analysis
inWT6 has 4 values
inWT6 R160P
inWT6 N290Y
inWT6 H322R
inWT6 H412QRIR2B_HUMAN #1
fasta sequenceRIR2B_HUMAN protein sequence analysis
inMTDPS8A has 7 values
incolorectaladenocarcinomascellline has 1 value
inMTDPS8B has 2 values
foundinapatientwithcombinedrespiratory has 1 value
inRCDFRD has 1 value
foundinapatientwithcombinedrespiratory P33S
inMTDPS8A W64R
inMTDPS8B R110H
incolorectaladenocarcinomascellline V115L
inMTDPS8B R121H
inMTDPS8A E194G
inMTDPS8A E194K
inMTDPS8A I224S
inMTDPS8A C236F
inRCDFRD E262D
inMTDPS8A M282I
inMTDPS8A L317VRN19A_HUMAN #2
fasta sequenceRN19A_HUMAN protein sequence analysis
RN19A_HUMAN has no polymorphisms
RNF11_HUMAN #2
fasta sequenceRNF11_HUMAN protein sequence analysis
RNF11_HUMAN has no polymorphisms
S20A2_HUMAN #1
fasta sequenceS20A2_HUMAN protein sequence analysis
inIBGC1 has 20 values
inIBGC1 I11L
inIBGC1 D28N
inIBGC1 A51V
inIBGC1 L62P
inIBGC1 R71H
inIBGC1 T115M
inIBGC1 P184L
inIBGC1 N194S
inIBGC1 R382Q
inIBGC1 S434W
inIBGC1 G498R
inIBGC1 H502Q
inIBGC1 P568L
inIBGC1 G571S
inIBGC1 E575K
inIBGC1 T595M
inIBGC1 S601L
inIBGC1 S601W
inIBGC1 T629T
inIBGC1 S637RS39AE_HUMAN #4
fasta sequenceS39AE_HUMAN protein sequence analysis
inHMNDYT2 has 3 values
inHCIN has 1 value
inHMNDYT2 F98V
inHMNDYT2 G383R
inHCIN L441R
inHMNDYT2 N469KS53A1_HUMAN #1
fasta sequenceS53A1_HUMAN protein sequence analysis
inIBGC6 has 7 values
inIBGC6 S136N
inIBGC6 L140P
inIBGC6 L145P
inIBGC6 L218S
inIBGC6 R459C
inIBGC6 N619D
inIBGC6 I629SSAP_HUMAN #6
fasta sequenceSAP_HUMAN protein sequence analysis
inMLDSAPB has 4 values
inPARK24 has 2 values
inGDSAPC has 2 values
inMLDSAPB N215H
inMLDSAPB N215K
inMLDSAPB T217I
inMLDSAPB C241S
inGDSAPC L349P
inGDSAPC C388F
inPARK24 C412Y
inPARK24 Q453PSC6A3_HUMAN #10
fasta sequenceSC6A3_HUMAN protein sequence analysis
inPKDYS1 has 2 values
inabreastcancersample has 2 values
inabreastcancersample G121S
inPKDYS1 L368Q
inPKDYS1 P395L
inabreastcancersample R544SSELT_HUMAN #4
fasta sequenceSELT_HUMAN protein sequence analysis
SELT_HUMAN has no polymorphisms
SEPT4_HUMAN #2
fasta sequenceSEPT4_HUMAN protein sequence analysis
SEPT4_HUMAN has no polymorphisms
SEPT5_HUMAN #2
fasta sequenceSEPT5_HUMAN protein sequence analysis
SEPT5_HUMAN has no polymorphisms
SHLP2_HUMAN #4
fasta sequenceSHLP2_HUMAN protein sequence analysis
increasesproteinstability has 1 value
increasesproteinstability K4RSL9A6_HUMAN #5
fasta sequenceSL9A6_HUMAN protein sequence analysis
inMRXSCH has 3 values
inNDPACX has 1 value
doesnotaffectpost-translational has 2 values
doesnotaffectpost-translational A9S
inNDPACX W89R
inMRXSCH L188P
inMRXSCH G218R
inMRXSCH G383D
doesnotaffectpost-translational R568QSNCAP_HUMAN #13
fasta sequenceSNCAP_HUMAN protein sequence analysis
foundinpatientswithsymptomsofParkinson has 1 value
foundinpatientswithsymptomsofParkinson R621CSQSTM_HUMAN #8
fasta sequenceSQSTM_HUMAN protein sequence analysis
inPDB3 has 3 values
inPDB3andFTDALS3 has 4 values
inFTDALS3 has 20 values
confirmedatproteinlevel has 1 value
inFTDALS3 A16V
inFTDALS3 A33V
inFTDALS3 D80E
inFTDALS3 V90M
inFTDALS3 R107W
inFTDALS3 D129N
inFTDALS3 V153I
inFTDALS3 R212C
inFTDALS3 G219V
inFTDALS3 S226P
inFTDALS3 P228L
inFTDALS3 P232T
confirmedatproteinlevel K238E
inFTDALS3 D258N
inFTDALS3 S318P
inFTDALS3 R321C
inFTDALS3 D329G
inFTDALS3 P348L
inFTDALS3 S370P
inFTDALS3 A381V
inPDB3andFTDALS3 P387L
inPDB3andFTDALS3 P392L
inPDB3 S399P
inPDB3 M404T
inPDB3 M404V
inPDB3andFTDALS3 G411S
inPDB3andFTDALS3 G425R
inFTDALS3 T430PSYNJ1_HUMAN #27
fasta sequenceSYNJ1_HUMAN protein sequence analysis
inDEE53 has 3 values
inPARK20 has 3 values
inPARK20 R219Q
inPARK20 R420P
inDEE53 Y849C
inDEE53 M981I
inDEE53 Y1018S
inPARK20 S1383RSYT11_HUMAN #19
fasta sequenceSYT11_HUMAN protein sequence analysis
SYT11_HUMAN has no polymorphisms
SYUA_HUMAN #37
fasta sequenceSYUA_HUMAN protein sequence analysis
inPARK1 has 3 values
inPARK1andDLB has 1 value
inPARK1 A30P
inPARK1andDLB E46K
inPARK1 H50Q
inPARK1 A53TSYWM_HUMAN #9
fasta sequenceSYWM_HUMAN protein sequence analysis
inPKDYS3 has 2 values
inNEMMLASandPKDYS3 has 1 value
inNEMMLAS has 7 values
inNEMMLASandPKDYS3 W13G
inNEMMLAS G45V
inPKDYS3 G50D
inNEMMLAS H77Q
inNEMMLAS V178L
inPKDYS3 S228W
inNEMMLAS V278G
inNEMMLAS K313M
inNEMMLAS V349L
inNEMMLAS E352KT106B_HUMAN #1
fasta sequenceT106B_HUMAN protein sequence analysis
inHLD16 has 1 value
inHLD16 D252NT126B_HUMAN #1
fasta sequenceT126B_HUMAN protein sequence analysis
inMC1DN29 has 1 value
inMC1DN29 G212VTAF1_HUMAN #33
fasta sequenceTAF1_HUMAN protein sequence analysis
inMRXS33 has 7 values
inacolorectaladenocarcinomasample has 1 value
foundinapatientwithX-linked has 2 values
inametastaticmelanomasample has 1 value
inalungbronchoalveolarcarcinomasample has 1 value
inacolorectaladenocarcinomasample G474D
foundinapatientwithX-linked N493D
inMRXS33 P596S
inametastaticmelanomasample E672K
inalungbronchoalveolarcarcinomasample M712I
inMRXS33 C807R
inMRXS33 D976H
foundinapatientwithX-linked R1190C
inMRXS33 R1246W
inMRXS33 I1337T
inMRXS33 R1452H
inMRXS33 N1517HTAU_HUMAN #41
fasta sequenceTAU_HUMAN protein sequence analysis
inPIDB has 4 values
inFTD1/Alzheimerdisease has 1 value
inFTD1 has 11 values
infatalrespiratoryhypoventilation has 1 value
riskfactorforPSNP1 has 2 values
inPSNP1 has 2 values
inFTD1andCBD has 1 value
inFTD1 R5H
inPSNP1 R5L
riskfactorforPSNP1 D285N
riskfactorforPSNP1 V289A
inPIDB K574T
inFTD1 L583V
inFTD1 G589V
inFTD1 G590R
inFTD1 N596K
inFTD1 N613H
inFTD1 P618L
inFTD1andCBD P618S
inPSNP1 G620V
inFTD1 S622N
inFTD1 K634M
inPIDB S637F
inFTD1 V654M
inFTD1 E659V
infatalrespiratoryhypoventilation S669L
inPIDB K686I
inPIDB G706R
inFTD1/Alzheimerdisease R723WTERA_HUMAN #15
fasta sequenceTERA_HUMAN protein sequence analysis
inFTDALS6andIBMPFD1 has 2 values
inFTDALS6 has 2 values
inIBMPFD1 has 13 values
inCMT2Y has 2 values
inIBMPFD1 R95G
inCMT2Y G97E
inIBMPFD1 I126F
inIBMPFD1 R155C
inFTDALS6andIBMPFD1 R155H
inIBMPFD1 R155L
inIBMPFD1 R155P
inIBMPFD1 R155S
inFTDALS6 R159G
inIBMPFD1 R159H
inIBMPFD1 A160T
inCMT2Y E185K
inFTDALS6andIBMPFD1 R191Q
inIBMPFD1 L198W
inIBMPFD1 A232E
inIBMPFD1 I254F
inIBMPFD1 I369T
inIBMPFD1 N387H
inFTDALS6 D592NTIDC1_HUMAN #1
fasta sequenceTIDC1_HUMAN protein sequence analysis
TIDC1_HUMAN has no polymorphisms
TM175_HUMAN #8
fasta sequenceTM175_HUMAN protein sequence analysis
associatedwithdecreasedriskforParkinson has 1 value
associatedwithincreasedriskforParkinson has 1 value
associatedwithdecreasedriskforParkinson Q65P
associatedwithincreasedriskforParkinson M393TTM230_HUMAN #7
fasta sequenceTM230_HUMAN protein sequence analysis
inPARK has 2 values
inPARK Y29C
inPARK R78LTRIM9_HUMAN #2
fasta sequenceTRIM9_HUMAN protein sequence analysis
TRIM9_HUMAN has no polymorphisms
TRPM7_HUMAN #4
fasta sequenceTRPM7_HUMAN protein sequence analysis
inagastricadenocarcinomasample has 1 value
inabreastinfiltratingductalcarcinoma has 1 value
foundinapatientwithhypomagnesemiaand has 1 value
mutantchannelsarefunctionalbutshow has 1 value
inanovarianserouscarcinomasample has 1 value
inanovarianserouscarcinomasample S406C
inabreastinfiltratingductalcarcinoma T720S
inagastricadenocarcinomasample M830V
foundinapatientwithhypomagnesemiaand G1046D
mutantchannelsarefunctionalbutshow T1482ITY3H_HUMAN #16
fasta sequenceTY3H_HUMAN protein sequence analysis
inARSEGS has 38 values
foundinapatientwithARSEGS has 1 value
foundinapatientwithARSEGS S19C
inARSEGS C207Y
inARSEGS D227G
inARSEGS R233H
inARSEGS L236P
inARSEGS A241T
inARSEGS H246Y
inARSEGS G247S
inARSEGS P251L
inARSEGS E259G
inARSEGS T276P
inARSEGS C279F
inARSEGS G294R
inARSEGS R296Q
inARSEGS P301A
inARSEGS F309S
inARSEGS T314M
inARSEGS G315S
inARSEGS R319P
inARSEGS R328W
inARSEGS R337H
inARSEGS C359F
inARSEGS F375L
inARSEGS A376V
inARSEGS I382T
inARSEGS A385V
inARSEGS L387M
inARSEGS I394T
inARSEGS T399M
inARSEGS G408R
inARSEGS Q412K
inARSEGS G414R
inARSEGS G428R
inARSEGS R441P
inARSEGS S467G
inARSEGS P492L
inARSEGS T494M
inARSEGS D498G
inARSEGS L510QUCHL1_HUMAN #24
fasta sequenceUCHL1_HUMAN protein sequence analysis
itconfersprotectionfromoxidativestress has 1 value
inSPG79A has 1 value
inSPG79B has 3 values
inPARK5 has 1 value
inSPG79B E7A
itconfersprotectionfromoxidativestress S18Y
inSPG79A L52L
inPARK5 I93M
inSPG79B R178Q
inSPG79B A216DVMAT2_HUMAN #8
fasta sequenceVMAT2_HUMAN protein sequence analysis
inPKDYS2 has 1 value
inPKDYS2 P387LVP13C_HUMAN #14
fasta sequenceVP13C_HUMAN protein sequence analysis
inPARK23 has 1 value
inPARK23 G1389RVPS35_HUMAN #33
fasta sequenceVPS35_HUMAN protein sequence analysis
foundinapatientwithParkinsondisease has 3 values
foundinaconsanguineousfamilywith has 1 value
inPARK17 has 1 value
foundinapatientwithParkinsondisease I241M
foundinapatientwithParkinsondisease P316S
foundinaconsanguineousfamilywith Q469P
foundinapatientwithParkinsondisease R524W
inPARK17 D620NVPS41_HUMAN #3
fasta sequenceVPS41_HUMAN protein sequence analysis
disruptsinteractionwithARL8B has 1 value
inSCAR29 has 4 values
inSCAR29 E13G
disruptsinteractionwithARL8B T146P
inSCAR29 S285P
inSCAR29 R633P
inSCAR29 C791FWIPI4_HUMAN #1
fasta sequenceWIPI4_HUMAN protein sequence analysis
inNBIA5 has 1 value
inNBIA5 A208DZN746_HUMAN #6
fasta sequenceZN746_HUMAN protein sequence analysis
ZN746_HUMAN has no polymorphisms
ZNT10_HUMAN #4
fasta sequenceZNT10_HUMAN protein sequence analysis
inHMNDYT1 has 2 values
inHMNDYT1 L89P
inHMNDYT1 L349P
Proteins in Ranking Order
PRKN_HUMAN #136LRRK2_HUMAN #127
PARK7_HUMAN #105
PINK1_HUMAN #95
AT132_HUMAN #53
TAU_HUMAN #41
SYUA_HUMAN #37
GBA1_HUMAN #33
TAF1_HUMAN #33
VPS35_HUMAN #33
GGYF2_HUMAN #31
HTRA2_HUMAN #27
IF4G1_HUMAN #27
SYNJ1_HUMAN #27
FBX7_HUMAN #25
UCHL1_HUMAN #24
RAB32_HUMAN #20
SYT11_HUMAN #19
NR4A2_HUMAN #17
AT10B_HUMAN #16
AUXI_HUMAN #16
GPR37_HUMAN #16
TY3H_HUMAN #16
PACRG_HUMAN #15
TERA_HUMAN #15
VP13C_HUMAN #14
RB39B_HUMAN #13
SNCAP_HUMAN #13
FGF20_HUMAN #12
SC6A3_HUMAN #10
ANGI_HUMAN #9
SYWM_HUMAN #9
DJC13_HUMAN #8
PTRD1_HUMAN #8
SQSTM_HUMAN #8
TM175_HUMAN #8
VMAT2_HUMAN #8
AT1A3_HUMAN #7
DPOG1_HUMAN #7
PTPA_HUMAN #7
TM230_HUMAN #7
CHCH2_HUMAN #6
NDUAD_HUMAN #6
PLPL9_HUMAN #6
SAP_HUMAN #6
ZN746_HUMAN #6
CDK5_HUMAN #5
QCR1_HUMAN #5
RENR_HUMAN #5
SL9A6_HUMAN #5
CNR1_HUMAN #4
CPLX1_HUMAN #4
DCTN1_HUMAN #4
PRKRA_HUMAN #4
S39AE_HUMAN #4
SELT_HUMAN #4
SHLP2_HUMAN #4
TRPM7_HUMAN #4
ZNT10_HUMAN #4
ATX2_HUMAN #3
COQ2_HUMAN #3
DDIT4_HUMAN #3
PCS1N_HUMAN #3
VPS41_HUMAN #3
AA1R_HUMAN #2
ACBD6_HUMAN #2
AIMP2_HUMAN #2
KLK6_HUMAN #2
LIGO1_HUMAN #2
NDUS2_HUMAN #2
PSN1_HUMAN #2
REST_HUMAN #2
RN19A_HUMAN #2
RNF11_HUMAN #2
SEPT4_HUMAN #2
SEPT5_HUMAN #2
TRIM9_HUMAN #2
ADT1_HUMAN #1
AT10A_HUMAN #1
CIA30_HUMAN #1
CMPK2_HUMAN #1
COASY_HUMAN #1
CS012_HUMAN #1
DPOG2_HUMAN #1
FMT_HUMAN #1
FRIL_HUMAN #1
FXRD1_HUMAN #1
GRN_HUMAN #1
HRH2_HUMAN #1
JAM2_HUMAN #1
MECP2_HUMAN #1
MYORG_HUMAN #1
NAA60_HUMAN #1
NDUA1_HUMAN #1
NDUA2_HUMAN #1
NDUA6_HUMAN #1
NDUA8_HUMAN #1
NDUA9_HUMAN #1
NDUAA_HUMAN #1
NDUAB_HUMAN #1
NDUAC_HUMAN #1
NDUB3_HUMAN #1
NDUB7_HUMAN #1
NDUB8_HUMAN #1
NDUB9_HUMAN #1
NDUBA_HUMAN #1
NDUBB_HUMAN #1
NDUC2_HUMAN #1
NDUF2_HUMAN #1
NDUF3_HUMAN #1
NDUF4_HUMAN #1
NDUF5_HUMAN #1
NDUF6_HUMAN #1
NDUF8_HUMAN #1
NDUS1_HUMAN #1
NDUS3_HUMAN #1
NDUS4_HUMAN #1
NDUS6_HUMAN #1
NDUS7_HUMAN #1
NDUS8_HUMAN #1
NDUV1_HUMAN #1
NDUV2_HUMAN #1
NGBR_HUMAN #1
NU3M_HUMAN #1
NUBPL_HUMAN #1
PAWR_HUMAN #1
PDE8B_HUMAN #1
PDGFB_HUMAN #1
PEO1_HUMAN #1
PGFRB_HUMAN #1
PGK1_HUMAN #1
PIEZ1_HUMAN #1
PRIO_HUMAN #1
RIR2B_HUMAN #1
S20A2_HUMAN #1
S53A1_HUMAN #1
T106B_HUMAN #1
T126B_HUMAN #1
TIDC1_HUMAN #1
WIPI4_HUMAN #1