Disease Motifs
Investigating the Biomechanics of Disease
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Parkinson's disease

Parkinson's Disease Gene Network

Parkinson's disease gene network
Parkinson's disease gene network showing 76 genes that have some association with Parkinson's disease. This network was generated by using the GeneMANIA website. You will need to view/use the GeneMania website through any browser other than IE which is a great shame as this would be the browser of my choice. So just in case like me you work in IE you will need to copy the link into another browser for this occasion the url is http://www.genemania.org This site was a kindly suggested by Joseph Geraci with a similar suggestion from Paul Bible.

This has been reworked from the data updated around 17th or 18th of January 2017. There were 95 proteins, two of which were discarded for being false positives. 5'-AMP-activated protein kinase subunit gamma-2 (AAKG2_HUMAN) the script picked up the keyword 'Parkinson' in the name 'Wolff-Parkinson-White syndrome (WPWS)' which is believed to be something quite different. The second was Beta-synuclein (SYUB_HUMAN) where the scripted picked up on the sentence 'Not found in the Lewy bodies associated with Parkinson disease'. These proteins have been removed from this list leaving 93 proteins for further consideration.

This work has been re-done with a database that were downloaded from the EBI on the 17th or 18th of January 2017 at EBI

Some of the polymorphism names have not been picked out clearly by the script that I used e.g the hypertrophic polymorphism (A123D) in the first protein ADT1_HUMAN should be 'hypertrophic cardiomyopathy' but has only caught the word "hypertrophic". This should be corrected to 'hypertrophic cardiomyopathy'. Another example would be CERU_HUMAN there is the statement that "in has 1 value" and we are told that this is I63T "in I63T", this has caught the "in" in the phrase "retained in the ER due to impaired N-glycosylation"; this is another imperfection. These 'errors' need to be corrected manually although I probably will not spend too much time doing this.

Please note that not all polymorphisms have been used.

While running the script that produced these results the BLAST program used stopped working at certain points and the windows operating system was trying to shut the program down but fortunately it carried on with its task. The points that this occured are: for the following proteins:

  1. DCTN1_HUMAN
  2. FXRD1_HUMAN
  3. GLCM_HUMAN
  4. LRRK2_HUMAN
  5. PERQ2_HUMAN
  6. PIEZ1_HUMAN
  7. RN19A_HUMAN
  8. TY3H_HUMAN
  9. ZN746_HUMAN
Hopefully the completeness of these particular results have not been affected by this and with a quick glance everything does seem to be okay. Possible explanations for this could include the large size of some of the proteins e.g. LRRK2 or the large number of polymorphisms e.g. GLCM.

There are a few mistakes that I have noticed such as that some of the fasta title bars have not been printed out correctly this mainly seems to happen whenever Influenza A virus is mentioned. I suppose this all means I should get back to basics and re-write some of the Perl scripts but that would take quite a bit of time which I don't have at the moment. If I do decide to do a third re-write of this bundles of scripts loosely termed M2 after the original set of just DM I can then think about doing the corrections. HOWEVER, IF YOU NOTICE ANY OBVIOUS MISTAKES PLEASE LET ME KNOW. I am interested in cataloguing any mistakes for future reference in case I do manage to get the time and the money to spend time re-writing the Perl scripts again. Otherwise I will still keep using them as they are; as the scripts are still producing results which seem to be accurate as far as I can see. There are other errors that I am aware of and these could possibly be looked at later but it is the possible errors that I don't know about that would give me the most concern.




  1. ADT1_HUMAN

    ADT1_HUMAN protein sequence analysis

    ADT1_HUMAN polymorphic protein sequence analysis

    hypertrophic has 1 value
    PEOA2 has 5 values

    PEOA2 A90D
    PEOA2 L98P
    PEOA2 D104G
    PEOA2 A114P
    hypertrophic A123D
    PEOA2 V289M


  2. AIMP2_HUMAN

    AIMP2_HUMAN protein sequence analysis

    AIMP2_HUMAN polymorphic protein sequence analysis

    lung has 2 values

    lung I92V
    lung G209S


  3. AT132_HUMAN

    AT132_HUMAN protein sequence analysis

    AT132_HUMAN polymorphic protein sequence analysis

    KRS has 4 values
    CLN12 has 1 value
    patient has 1 value

    KRS F182L
    KRS G504R
    patient G533R
    CLN12 M854R
    KRS G877R
    KRS L1059R


  4. AT1A3_HUMAN

    AT1A3_HUMAN protein sequence analysis

    AT1A3_HUMAN polymorphic protein sequence analysis

    CAPOS has 1 value
    DYT12 has 7 values
    AHC2 has 23 values

    AHC2 S137F
    AHC2 S137Y
    AHC2 Q140L
    AHC2 D220N
    AHC2 I274N
    DYT12 I274T
    DYT12 E277K
    AHC2 V322D
    AHC2 C333F
    AHC2 L371P
    DYT12 T613M
    AHC2 G755C
    AHC2 G755S
    DYT12 I758S
    AHC2 S772R
    AHC2 N773I
    AHC2 N773S
    DYT12 F780L
    AHC2 D801N
    DYT12 D801Y
    AHC2 M806R
    AHC2 I810S
    AHC2 S811P
    AHC2 E815K
    CAPOS E818K
    DYT12 D923N
    AHC2 D923Y
    AHC2 C927Y
    AHC2 G947R
    AHC2 A955D
    AHC2 D992Y


  5. ATX2_HUMAN

    ATX2_HUMAN protein sequence analysis

    ATX2_HUMAN has no polymorphisms



  6. AUXI_HUMAN

    AUXI_HUMAN protein sequence analysis

    AUXI_HUMAN has no polymorphisms



  7. CDK5_HUMAN

    CDK5_HUMAN protein sequence analysis

    CDK5_HUMAN has no polymorphisms



  8. CERU_HUMAN

    CERU_HUMAN protein sequence analysis

    CERU_HUMAN polymorphic protein sequence analysis

    in has 1 value
    ferroxidase has 1 value

    in I63T
    ferroxidase D544E


  9. CHCH2_HUMAN

    CHCH2_HUMAN protein sequence analysis

    CHCH2_HUMAN polymorphic protein sequence analysis

    polymorphism has 7 values
    PARK22 has 2 values

    polymorphism P2L
    polymorphism G4R
    polymorphism P14S
    polymorphism P34L
    polymorphism A37V
    polymorphism A49V
    PARK22 T61I
    polymorphism A93V
    PARK22 R145Q


  10. COASY_HUMAN

    COASY_HUMAN protein sequence analysis

    COASY_HUMAN polymorphic protein sequence analysis

    NBIA6 has 1 value

    NBIA6 R499C


  11. COQ2_HUMAN

    COQ2_HUMAN protein sequence analysis

    COQ2_HUMAN polymorphic protein sequence analysis

    MSA1 has 11 values
    COQ10D1 has 6 values

    MSA1 F29L
    MSA1 P49H
    MSA1 S57T
    MSA1 M78V
    COQ10D1 S96N
    MSA1 I97T
    MSA1 P107S
    MSA1 S113F
    COQ10D1 M132R
    COQ10D1 R147H
    COQ10D1 N178S
    COQ10D1 Y247C
    COQ10D1 A252V
    MSA1 T267A
    MSA1 S297C
    MSA1 R337Q
    MSA1 V343A


  12. CPLX1_HUMAN

    CPLX1_HUMAN protein sequence analysis

    CPLX1_HUMAN has no polymorphisms



  13. CS012_HUMAN

    CS012_HUMAN protein sequence analysis

    CS012_HUMAN polymorphic protein sequence analysis

    in has 1 value
    NBIA4 has 15 values

    NBIA4 T11M
    NBIA4 S39F
    NBIA4 A48P
    NBIA4 G53R
    NBIA4 G58S
    NBIA4 P60L
    NBIA4 A63P
    NBIA4 G65E
    NBIA4 G65V
    NBIA4 G69R
    NBIA4 P83L
    NBIA4 Q96P
    NBIA4 R98S
    NBIA4 L121Q
    NBIA4 A134P
    in K142E


  14. DCTN1_HUMAN

    DCTN1_HUMAN protein sequence analysis

    DCTN1_HUMAN polymorphic protein sequence analysis

    PERRYS has 7 values
    in has 1 value
    effect has 1 value
    ALS has 4 values
    NORM has 1 value
    HMN7B has 1 value

    PERRYS F52L
    HMN7B G59S
    PERRYS G71A
    PERRYS G71E
    PERRYS G71R
    PERRYS T72P
    PERRYS Q74P
    PERRYS Y78C
    NORM A163P
    effect I196V
    ALS M571T
    in Y670F
    ALS R785W
    ALS R1101K
    ALS T1249I


  15. DDIT4_HUMAN

    DDIT4_HUMAN protein sequence analysis

    DDIT4_HUMAN has no polymorphisms



  16. DJC13_HUMAN

    DJC13_HUMAN protein sequence analysis

    DJC13_HUMAN polymorphic protein sequence analysis

    PARK has 4 values

    PARK V722L
    PARK N855S
    PARK R1266Q
    PARK T1895M


  17. DPOG1_HUMAN

    DPOG1_HUMAN protein sequence analysis

    DPOG1_HUMAN polymorphic protein sequence analysis

    MTDPS4A has 12 values
    MTDPS4B has 1 value
    PEOB1, has 4 values
    PEOB1 has 27 values
    SANDO has 7 values
    PEOA1 has 9 values
    LS has 1 value
    SANDO, has 1 value

    PEOB1 R3P
    PEOB1 R227W
    MTDPS4A R232G
    LS R232H
    MTDPS4A L244P
    PEOB1, T251I
    PEOB1 G268A
    PEOB1 L304R
    PEOB1 Q308H
    PEOB1 R309L
    PEOB1 W312R
    PEOB1 G380D
    PEOB1 G431V
    PEOB1, A467T
    PEOB1 N468D
    SANDO Q497H
    PEOA1 S511N
    SANDO G517V
    PEOB1 R562Q
    PEOB1 R574W
    PEOB1 R579W
    PEOB1, P587L
    PEOB1 M603L
    SANDO R627Q
    SANDO R627W
    PEOB1 P648R
    PEOB1 G737R
    SANDO, W748S
    MTDPS4A A767D
    SANDO R807C
    PEOB1 R807P
    PEOA1 Y831C
    PEOB1, G848S
    PEOB1 R853W
    MTDPS4B N864S
    MTDPS4A Q879H
    MTDPS4A T885S
    PEOB1 A889T
    MTDPS4A T914P
    PEOA1 G923D
    SANDO H932Y
    PEOA1 R943H
    PEOA1 R953C
    PEOA1 Y955C
    MTDPS4A A957P
    PEOA1 A957S
    PEOB1 R1047Q
    SANDO G1051R
    PEOB1 G1076V
    PEOB1 R1096C
    MTDPS4A R1096H
    PEOB1 S1104C
    PEOB1 A1105T
    PEOB1 V1106I
    MTDPS4A H1110Y
    MTDPS4A H1134R
    MTDPS4A E1136K
    PEOB1 R1146C
    PEOA1 S1176L
    PEOB1 D1184N
    PEOA1 D1186H
    MTDPS4A K1191N


  18. DPOG2_HUMAN

    DPOG2_HUMAN protein sequence analysis

    DPOG2_HUMAN polymorphic protein sequence analysis

    PEOA4 has 1 value
    is has 1 value

    is G416A
    PEOA4 G451E


  19. FBX7_HUMAN

    FBX7_HUMAN protein sequence analysis

    FBX7_HUMAN polymorphic protein sequence analysis

    PARK15 has 1 value
    in has 1 value

    PARK15 R378G
    in R481C


  20. FGF20_HUMAN

    FGF20_HUMAN protein sequence analysis

    FGF20_HUMAN has no polymorphisms



  21. FRIL_HUMAN

    FRIL_HUMAN protein sequence analysis

    FRIL_HUMAN polymorphic protein sequence analysis

    NBIA3 has 1 value
    HHCS has 1 value

    HHCS T30I
    NBIA3 A96T


  22. FXRD1_HUMAN

    FXRD1_HUMAN protein sequence analysis

    FXRD1_HUMAN polymorphic protein sequence analysis

    MT-C1D has 2 values

    MT-C1D R352W
    MT-C1D N430S


  23. GLCM_HUMAN

    GLCM_HUMAN protein sequence analysis

    GLCM_HUMAN polymorphic protein sequence analysis

    patient has 2 values
    perinatal has 2 values
    GD2 has 2 values
    GD1 has 12 values
    NORM has 1 value
    GD has 131 values
    GD3 has 2 values

    patient K46E
    GD V54L
    GD C55S
    GD1 D63N
    GD F76V
    GD2 E80K
    GD T82I
    GD G85E
    GD R87Q
    GD R87W
    GD K118N
    GD A129T
    GD S146L
    GD G152E
    GD N156D
    GD1 I158S
    GD I158T
    GD R159Q
    GD R159W
    GD P161L
    GD P161S
    GD M162V
    GD D166V
    GD1 R170C
    GD R170L
    GD T173I
    GD T173P
    GD A175E
    GD D179H
    GD K196Q
    GD P198L
    GD P198T
    GD I200N
    GD I200S
    GD H201P
    GD R209C
    GD R209P
    GD L213F
    GD A215D
    GD P217S
    GD1 P221L
    GD P221T
    GD W223R
    GD L224F
    GD N227K
    GD N227S
    GD G228V
    GD A229E
    GD A229T
    GD1 V230E
    GD1 V230G
    GD G232E
    GD G234E
    GD G234W
    GD S235P
    GD K237E
    GD G241E
    GD G241R
    GD Y244C
    GD Y251H
    GD F252I
    GD F255Y
    GD T270R
    GD S276P
    GD F290L
    GD1 H294Q
    GD R296Q
    GD F298L
    GD L303I
    GD G304D
    GD P305R
    GD S310N
    GD R324C
    GD R324H
    GD P328L
    GD K342I
    GD Y343C
    GD A348V
    perinatal H350R
    GD W351C
    GD Y352H
    GD D354H
    GD A357D
    GD T362I
    GD L363P
    GD G364R
    GD E365K
    GD A380T
    GD C381G
    GD E388K
    GD V391L
    GD R392G
    GD R392W
    GD R398Q
    GD M400I
    GD Y402C
    GD S403T
    GD S405G
    GD S405N
    GD T408M
    GD1 N409S
    GD L410V
    GD V414L
    GD G416S
    GD W417G
    GD D419A
    GD D419H
    GD D419N
    GD N421K
    GD P426L
    GD G428E
    GD G429R
    GD P430L
    GD N431I
    GD W432R
    GD V433L
    GD1 N435T
    GD F436S
    perinatal V437F
    GD3 V437L
    GD D438N
    GD D438Y
    GD1 P440L
    GD I441F
    GD I441T
    GD D448H
    GD D448V
    GD F450I
    GD Y451H
    GD K452Q
    GD P454R
    GD M455V
    GD F456V
    GD Y457C
    GD1 G460D
    GD K464E
    patient D482N
    GD1 L483P
    GD L483R
    GD A485P
    GD H490R
    GD A495P
    GD L500P
    GD N501K
    GD R502C
    GD R502P
    NORM L509P
    GD2 D513Y
    GD G517S
    GD3 T530I
    GD R535C
    GD R535H


  24. GPR37_HUMAN

    GPR37_HUMAN protein sequence analysis

    GPR37_HUMAN has no polymorphisms



  25. HRH2_HUMAN

    HRH2_HUMAN protein sequence analysis

    HRH2_HUMAN polymorphic protein sequence analysis

    NORM has 3 values

    NORM N217D
    NORM K231R
    NORM V268M


  26. HTRA2_HUMAN

    HTRA2_HUMAN protein sequence analysis

    HTRA2_HUMAN polymorphic protein sequence analysis

    NORM has 2 values
    PARK13 has 1 value

    NORM A141S
    NORM G399S
    PARK13 R404W


  27. IF4G1_HUMAN

    IF4G1_HUMAN protein sequence analysis

    IF4G1_HUMAN polymorphic protein sequence analysis

    colorectal has 1 value
    PARK18 has 2 values
    in has 3 values

    PARK18 A502V
    in G686C
    colorectal P696L
    in S1164R
    in R1197W
    PARK18 R1205H


  28. KLK6_HUMAN

    KLK6_HUMAN protein sequence analysis

    KLK6_HUMAN has no polymorphisms



  29. LIGO1_HUMAN

    LIGO1_HUMAN protein sequence analysis

    LIGO1_HUMAN has no polymorphisms



  30. LRRK2_HUMAN

    LRRK2_HUMAN protein sequence analysis

    LRRK2_HUMAN polymorphic protein sequence analysis

    be has 1 value
    not has 1 value
    with has 1 value
    PARK has 1 value
    in has 1 value
    an has 2 values
    PARK8 has 25 values

    PARK8 M712V
    PARK8 R793M
    PARK8 Q930R
    PARK8 R1067Q
    PARK8 S1096C
    PARK8 I1122V
    PARK8 S1228T
    in K1359I
    PARK8 I1371V
    PARK R1441C
    PARK8 R1441G
    PARK8 R1441H
    PARK8 R1514Q
    PARK8 P1542S
    an R1550Q
    PARK8 V1598E
    be R1628P
    PARK8 Y1699C
    an R1723P
    PARK8 R1728H
    PARK8 R1728L
    PARK8 M1869T
    not K1906M
    PARK8 R1941H
    PARK8 I2012T
    PARK8 G2019S
    PARK8 I2020T
    PARK8 T2141M
    PARK8 R2143H
    PARK8 T2356I
    with G2385R
    PARK8 L2466H


  31. MIMIT_HUMAN

    MIMIT_HUMAN protein sequence analysis

    MIMIT_HUMAN has no polymorphisms



  32. NDUA1_HUMAN

    NDUA1_HUMAN protein sequence analysis

    NDUA1_HUMAN polymorphic protein sequence analysis

    MT-C1D has 2 values
    colorectal has 1 value

    MT-C1D G8R
    MT-C1D R37S
    colorectal R53C


  33. NDUAB_HUMAN

    NDUAB_HUMAN protein sequence analysis

    NDUAB_HUMAN has no polymorphisms



  34. NDUF3_HUMAN

    NDUF3_HUMAN protein sequence analysis

    NDUF3_HUMAN polymorphic protein sequence analysis

    MT-C1D has 2 values

    MT-C1D G77R
    MT-C1D R122P


  35. NDUF4_HUMAN

    NDUF4_HUMAN protein sequence analysis

    NDUF4_HUMAN polymorphic protein sequence analysis

    MT-C1D has 1 value

    MT-C1D L65P


  36. NDUF5_HUMAN

    NDUF5_HUMAN protein sequence analysis

    NDUF5_HUMAN polymorphic protein sequence analysis

    MT-C1D has 1 value
    LS has 2 values

    LS L159F
    MT-C1D L229P
    LS G250V


  37. NDUF6_HUMAN

    NDUF6_HUMAN protein sequence analysis

    NDUF6_HUMAN polymorphic protein sequence analysis

    MT-C1D has 6 values

    MT-C1D D69V
    MT-C1D S76P
    MT-C1D Q99R
    MT-C1D I124T
    MT-C1D H269D
    MT-C1D R274G


  38. NDUS1_HUMAN

    NDUS1_HUMAN protein sequence analysis

    NDUS1_HUMAN polymorphic protein sequence analysis

    MT-C1D has 2 values

    MT-C1D R241W
    MT-C1D D252G


  39. NDUS2_HUMAN

    NDUS2_HUMAN protein sequence analysis

    NDUS2_HUMAN polymorphic protein sequence analysis

    MT-C1D has 3 values

    MT-C1D R228Q
    MT-C1D P229Q
    MT-C1D S413P


  40. NDUS4_HUMAN

    NDUS4_HUMAN protein sequence analysis

    NDUS4_HUMAN has no polymorphisms



  41. NDUS7_HUMAN

    NDUS7_HUMAN protein sequence analysis

    NDUS7_HUMAN polymorphic protein sequence analysis

    MT-C1D has 1 value

    MT-C1D V122M


  42. NDUV1_HUMAN

    NDUV1_HUMAN protein sequence analysis

    NDUV1_HUMAN polymorphic protein sequence analysis

    LS has 1 value
    MT-C1D has 2 values

    MT-C1D E214K
    MT-C1D A341V
    LS T423M


  43. NU1M_HUMAN

    NU1M_HUMAN protein sequence analysis

    NU1M_HUMAN polymorphic protein sequence analysis

    contribute has 1 value
    MELAS has 1 value
    AD-MT has 1 value
    patient has 1 value
    MT-C1D has 1 value
    LHON has 4 values

    contribute A4T
    patient Y30C
    LHON Y30H
    MELAS M31T
    AD-MT M31V
    LHON A52T
    MT-C1D E214K
    LHON L285P
    LHON Y304H


  44. NU3M_HUMAN

    NU3M_HUMAN protein sequence analysis

    NU3M_HUMAN polymorphic protein sequence analysis

    LS has 1 value
    MT-C1D has 2 values

    MT-C1D S34P
    MT-C1D S45P
    LS A47T


  45. NU5M_HUMAN

    NU5M_HUMAN protein sequence analysis

    NU5M_HUMAN polymorphic protein sequence analysis

    in has 1 value
    LS has 2 values
    MT-C1D has 3 values
    LHON has 3 values
    MELAS has 2 values

    LS F124L
    MELAS E145G
    LHON A171V
    MT-C1D A236T
    MT-C1D M237L
    LS S250C
    MT-C1D V253A
    MELAS D393N
    in N447S
    LHON A458T
    LHON G465E


  46. NU6M_HUMAN

    NU6M_HUMAN protein sequence analysis

    NU6M_HUMAN polymorphic protein sequence analysis

    LHON has 5 values
    LDYT has 1 value
    MELAS has 1 value
    MT-C1D has 2 values

    LDYT I26M
    LHON G36S
    LHON Y59C
    LHON L60S
    MT-C1D M63V
    LHON M64I
    LHON M64V
    MT-C1D A72V
    MELAS A74V


  47. NUBPL_HUMAN

    NUBPL_HUMAN protein sequence analysis

    NUBPL_HUMAN polymorphic protein sequence analysis

    MT-C1D has 2 values
    variant has 1 value

    variant G56R
    MT-C1D D105Y
    MT-C1D L193F


  48. PACRG_HUMAN

    PACRG_HUMAN protein sequence analysis

    PACRG_HUMAN has no polymorphisms



  49. PARK7_HUMAN

    PARK7_HUMAN protein sequence analysis

    PARK7_HUMAN polymorphic protein sequence analysis

    disease-associated has 1 value
    PARK7 has 5 values

    PARK7 M26I
    disease-associated A39S
    PARK7 E64D
    PARK7 A104T
    PARK7 D149A
    PARK7 L166P


  50. PAWR_HUMAN

    PAWR_HUMAN protein sequence analysis

    PAWR_HUMAN has no polymorphisms



  51. PCSK1_HUMAN

    PCSK1_HUMAN protein sequence analysis

    PCSK1_HUMAN has no polymorphisms



  52. PDDC1_HUMAN

    PDDC1_HUMAN protein sequence analysis

    PDDC1_HUMAN has no polymorphisms



  53. PDE8B_HUMAN

    PDE8B_HUMAN protein sequence analysis

    PDE8B_HUMAN polymorphic protein sequence analysis

    PPNAD3 has 1 value

    PPNAD3 H305P


  54. PDGFB_HUMAN

    PDGFB_HUMAN protein sequence analysis

    PDGFB_HUMAN polymorphic protein sequence analysis

    IBGC5 has 2 values

    IBGC5 L9R
    IBGC5 L119P


  55. PEO1_HUMAN

    PEO1_HUMAN protein sequence analysis

    PEO1_HUMAN polymorphic protein sequence analysis

    PRLTS5 has 4 values
    PEOA3 has 29 values
    PEO has 1 value
    MTDPS7 has 5 values

    PEOA3 R303Q
    PEOA3 R303W
    PEOA3 W315L
    PEOA3 W315S
    MTDPS7 A318T
    PEOA3 K319E
    PEOA3 K319T
    PEOA3 R334P
    PEO R334Q
    PEOA3 P335L
    PEOA3 R354P
    PEOA3 R357P
    PEOA3 A359T
    MTDPS7 L360G
    PEOA3 A362P
    PEOA3 W363L
    PEOA3 I367T
    PEOA3 S369P
    PEOA3 S369Y
    PEOA3 F370C
    PEOA3 F370L
    PEOA3 R374Q
    PEOA3 L381P
    PRLTS5 R391H
    PEOA3 S426N
    PRLTS5 W441G
    MTDPS7 L456V
    MTDPS7 T457I
    PEOA3 Q458H
    PEOA3 A460P
    PEOA3 W474C
    PEOA3 W474S
    PEOA3 A475D
    PEOA3 A475P
    PEOA3 F478I
    PEOA3 E479K
    PRLTS5 V507I
    MTDPS7 Y508C
    PRLTS5 N585S


  56. PERQ2_HUMAN

    PERQ2_HUMAN protein sequence analysis

    PERQ2_HUMAN polymorphic protein sequence analysis

    PARK11 has 6 values
    be has 1 value

    be N56S
    PARK11 T112A
    PARK11 I278V
    PARK11 S335T
    PARK11 N457T
    PARK11 D606E
    PARK11 V1242I


  57. PGFRB_HUMAN

    PGFRB_HUMAN protein sequence analysis

    PGFRB_HUMAN polymorphic protein sequence analysis

    gastric has 1 value
    PENTT has 1 value
    breast has 1 value
    IBGC4 has 3 values
    IMF1 has 2 values
    KOGS has 1 value

    IMF1 R561C
    KOGS P584R
    gastric Y589H
    IBGC4 L658P
    IMF1 P660T
    PENTT V665A
    breast T882I
    IBGC4 R987W
    IBGC4 E1071V


  58. PIEZ1_HUMAN

    PIEZ1_HUMAN protein sequence analysis

    PIEZ1_HUMAN polymorphic protein sequence analysis

    DHS1 has 12 values
    LMPH3 has 4 values

    DHS1 G718S
    DHS1 G782S
    DHS1 R808Q
    LMPH3 L939M
    DHS1 S1117L
    DHS1 R1358P
    DHS1 A2003D
    DHS1 A2020T
    DHS1 A2020V
    DHS1 T2127M
    DHS1 M2225R
    LMPH3 P2430L
    LMPH3 R2456C
    DHS1 R2456H
    LMPH3 F2458L
    DHS1 R2488Q


  59. PINK1_HUMAN

    PINK1_HUMAN protein sequence analysis

    PINK1_HUMAN polymorphic protein sequence analysis

    disease-associated has 1 value
    predispose has 5 values
    PARK6 has 23 values
    glioblastoma has 1 value

    PARK6 C92F
    PARK6 C125G
    PARK6 Q126P
    PARK6 R147H
    PARK6 A168P
    PARK6 P196L
    glioblastoma P215L
    PARK6 A217D
    PARK6 E240K
    PARK6 L268V
    PARK6 H271Q
    PARK6 R279H
    PARK6 A280T
    PARK6 G309D
    PARK6 T313M
    PARK6 L347P
    PARK6 L369P
    PARK6 G386A
    PARK6 C388R
    disease-associated P399L
    PARK6 R407Q
    PARK6 G409V
    PARK6 E417G
    predispose Y431H
    predispose N451S
    PARK6 R464H
    predispose E476K
    PARK6 L489P
    predispose R501P
    predispose C575R


  60. PLPL9_HUMAN

    PLPL9_HUMAN protein sequence analysis

    PLPL9_HUMAN polymorphic protein sequence analysis

    PARK14 has 2 values
    NBIA2B has 2 values
    NBIA2A has 3 values

    NBIA2A V310E
    NBIA2A D484G
    NBIA2B K545T
    NBIA2B R632W
    NBIA2A T661M
    PARK14 R741Q
    PARK14 R747W


  61. PRIO_HUMAN

    PRIO_HUMAN protein sequence analysis

    PRIO_HUMAN polymorphic protein sequence analysis

    early-onset has 1 value
    GSD has 8 values
    SENF has 1 value
    NORM has 3 values
    to has 1 value
    CJD has 8 values
    FFI has 1 value
    schizoaffective has 1 value

    GSD P102L
    GSD P105L
    to A117V
    NORM G127V
    NORM M129V
    GSD G131V
    schizoaffective N171S
    FFI D178N
    CJD V180I
    SENF T183A
    GSD H187R
    early-onset T188K
    CJD E196K
    GSD F198S
    CJD E200K
    GSD D202N
    CJD V203I
    CJD R208H
    CJD V210I
    CJD E211Q
    GSD Q212P
    GSD Q217R
    NORM E219K
    CJD M232R


  62. PRKN2_HUMAN

    PRKN2_HUMAN protein sequence analysis

    PRKN2_HUMAN polymorphic protein sequence analysis

    patient has 2 values
    PARK has 2 values
    PARK2 has 28 values

    PARK2 V15M
    PARK2 R33Q
    PARK2 P37L
    PARK2 R42P
    PARK2 A46P
    PARK2 V56E
    PARK2 A82E
    PARK2 A92V
    PARK2 K161N
    PARK2 M192L
    PARK2 M192V
    PARK2 K211N
    PARK2 C212Y
    PARK2 T240M
    PARK2 T240R
    PARK C253Y
    PARK2 R256C
    PARK2 R275W
    PARK D280N
    PARK2 G284R
    PARK2 C289G
    patient Q311R
    PARK2 G328E
    PARK2 T351P
    patient A371T
    PARK2 R402C
    PARK2 T415N
    PARK2 C418R
    PARK2 G430D
    PARK2 C431F
    PARK2 P437L
    PARK2 C441R


  63. PRKRA_HUMAN

    PRKRA_HUMAN protein sequence analysis

    PRKRA_HUMAN polymorphic protein sequence analysis

    DYT16 has 1 value

    DYT16 P222L


  64. PSN1_HUMAN

    PSN1_HUMAN protein sequence analysis

    PSN1_HUMAN polymorphic protein sequence analysis

    in has 1 value
    AD3 has 93 values
    frontotemporal has 1 value
    gamma-secretase has 2 values
    disease-associated has 1 value
    NORM has 1 value
    CMD1U has 1 value

    AD3 R35Q
    AD3 A79V
    AD3 V82L
    AD3 I83T
    AD3 C92S
    AD3 V96F
    AD3 F105L
    frontotemporal L113P
    AD3 Y115C
    AD3 Y115H
    AD3 T116N
    AD3 P117L
    AD3 E120D
    AD3 E120K
    AD3 L134R
    AD3 N135D
    AD3 M139I
    AD3 M139K
    AD3 M139T
    AD3 M139V
    AD3 I143F
    AD3 I143T
    AD3 M146I
    AD3 M146L
    AD3 M146V
    AD3 T147I
    AD3 H163R
    AD3 H163Y
    AD3 W165C
    AD3 L166P
    AD3 S169L
    AD3 S169P
    AD3 L171P
    AD3 L173W
    AD3 L174M
    AD3 F177L
    AD3 F177S
    AD3 S178P
    AD3 G206A
    AD3 G206S
    AD3 G209E
    AD3 G209R
    AD3 G209V
    AD3 I213L
    AD3 I213T
    disease-associated H214Y
    AD3 L219P
    AD3 Q222R
    AD3 A231T
    AD3 A231V
    AD3 M233L
    AD3 M233T
    AD3 L235P
    AD3 A246E
    AD3 L250S
    AD3 A260V
    AD3 V261F
    AD3 L262F
    AD3 L262V
    AD3 C263R
    AD3 P264L
    AD3 G266S
    AD3 P267S
    AD3 P267T
    AD3 R269G
    AD3 R269H
    AD3 L271V
    AD3 T274R
    AD3 R278T
    AD3 E280A
    AD3 E280G
    AD3 L282R
    AD3 A285V
    AD3 L286V
    AD3 S289C
    in Y315C
    NORM E318G
    CMD1U D333G
    AD3 T354I
    AD3 R358Q
    AD3 S365Y
    AD3 G378E
    AD3 G384A
    AD3 S390I
    AD3 L392V
    AD3 G394V
    AD3 A396T
    AD3 N405S
    AD3 I408T
    AD3 A409T
    AD3 C410Y
    AD3 L418F
    AD3 A426P
    AD3 A431E
    gamma-secretase P433L
    AD3 L435F
    gamma-secretase L435R
    AD3 P436Q
    AD3 P436S
    AD3 I439V


  65. RB39B_HUMAN

    RB39B_HUMAN protein sequence analysis

    RB39B_HUMAN polymorphic protein sequence analysis

    WSMN has 1 value

    WSMN T168K


  66. RENR_HUMAN

    RENR_HUMAN protein sequence analysis

    RENR_HUMAN has no polymorphisms



  67. RIR2B_HUMAN

    RIR2B_HUMAN protein sequence analysis

    RIR2B_HUMAN polymorphic protein sequence analysis

    MTDPS8A has 7 values
    in has 1 value
    colorectal has 1 value
    MTDPS8B has 2 values

    in P33S
    MTDPS8A W64R
    MTDPS8B R110H
    colorectal V115L
    MTDPS8B R121H
    MTDPS8A E194G
    MTDPS8A E194K
    MTDPS8A I224S
    MTDPS8A C236F
    MTDPS8A M282I
    MTDPS8A L317V


  68. RN19A_HUMAN

    RN19A_HUMAN protein sequence analysis

    RN19A_HUMAN has no polymorphisms



  69. RNF11_HUMAN

    RNF11_HUMAN protein sequence analysis

    RNF11_HUMAN has no polymorphisms



  70. S20A2_HUMAN

    S20A2_HUMAN protein sequence analysis

    S20A2_HUMAN polymorphic protein sequence analysis

    IBGC1 has 19 values

    IBGC1 I11L
    IBGC1 D28N
    IBGC1 A51V
    IBGC1 L62P
    IBGC1 R71H
    IBGC1 T115M
    IBGC1 P184L
    IBGC1 N194S
    IBGC1 R382Q
    IBGC1 S434W
    IBGC1 G498R
    IBGC1 H502Q
    IBGC1 P568L
    IBGC1 G571S
    IBGC1 E575K
    IBGC1 T595M
    IBGC1 S601L
    IBGC1 S601W
    IBGC1 S637R


  71. S39AE_HUMAN

    S39AE_HUMAN protein sequence analysis

    S39AE_HUMAN polymorphic protein sequence analysis

    HMNDYT2 has 3 values

    HMNDYT2 F98V
    HMNDYT2 G383R
    HMNDYT2 N469K


  72. SC6A3_HUMAN

    SC6A3_HUMAN protein sequence analysis

    SC6A3_HUMAN polymorphic protein sequence analysis

    PKDYS has 2 values
    breast has 2 values

    breast G121S
    PKDYS L368Q
    PKDYS P395L
    breast R544S


  73. SEPT5_HUMAN

    SEPT5_HUMAN protein sequence analysis

    SEPT5_HUMAN has no polymorphisms



  74. SNCAP_HUMAN

    SNCAP_HUMAN protein sequence analysis

    SNCAP_HUMAN polymorphic protein sequence analysis

    in has 1 value

    in R621C


  75. SQSTM_HUMAN

    SQSTM_HUMAN protein sequence analysis

    SQSTM_HUMAN polymorphic protein sequence analysis

    FTDALS3 has 20 values
    NORM has 1 value
    PDB3 has 7 values

    FTDALS3 A16V
    FTDALS3 A33V
    FTDALS3 D80E
    FTDALS3 V90M
    FTDALS3 R107W
    FTDALS3 D129N
    FTDALS3 V153I
    FTDALS3 R212C
    FTDALS3 G219V
    FTDALS3 S226P
    FTDALS3 P228L
    FTDALS3 P232T
    NORM K238E
    FTDALS3 D258N
    FTDALS3 S318P
    FTDALS3 R321C
    FTDALS3 D329G
    FTDALS3 P348L
    FTDALS3 S370P
    FTDALS3 A381V
    PDB3 P387L
    PDB3 P392L
    PDB3 S399P
    PDB3 M404T
    PDB3 M404V
    PDB3 G411S
    PDB3 G425R
    FTDALS3 T430P


  76. SYNJ1_HUMAN

    SYNJ1_HUMAN protein sequence analysis

    SYNJ1_HUMAN polymorphic protein sequence analysis

    PARK20 has 2 values

    PARK20 R219Q
    PARK20 S1383R


  77. SYT11_HUMAN

    SYT11_HUMAN protein sequence analysis

    SYT11_HUMAN has no polymorphisms



  78. SYUA_HUMAN

    SYUA_HUMAN protein sequence analysis

    SYUA_HUMAN polymorphic protein sequence analysis

    PARK1 has 4 values

    PARK1 A30P
    PARK1 E46K
    PARK1 H50Q
    PARK1 A53T


  79. TAF1_HUMAN

    TAF1_HUMAN protein sequence analysis

    TAF1_HUMAN polymorphic protein sequence analysis

    MRXS33 has 7 values
    lung has 1 value
    metastatic has 1 value
    colorectal has 1 value

    colorectal G453D
    MRXS33 P575S
    metastatic E651K
    lung M691I
    MRXS33 C786R
    MRXS33 D955H
    MRXS33 R1225W
    MRXS33 I1316T
    MRXS33 R1431H
    MRXS33 N1496H


  80. TAU_HUMAN

    TAU_HUMAN protein sequence analysis

    TAU_HUMAN polymorphic protein sequence analysis

    FTD/Alzheimer has 1 value
    factor has 2 values
    FTD has 11 values
    PIDB has 4 values
    fatal has 1 value
    PSNP1 has 2 values

    FTD R5H
    PSNP1 R5L
    factor D285N
    factor V289A
    PIDB K574T
    FTD L583V
    FTD G589V
    FTD N596K
    FTD N613H
    FTD P618L
    FTD P618S
    PSNP1 G620V
    FTD S622N
    FTD K634M
    PIDB S637F
    FTD V654M
    FTD E659V
    fatal S669L
    PIDB K686I
    PIDB G706R
    FTD/Alzheimer R723W


  81. TERA_HUMAN

    TERA_HUMAN protein sequence analysis

    TERA_HUMAN polymorphic protein sequence analysis

    IBMPFD1 has 7 values
    CMT2Y has 2 values
    ALS14 has 4 values
    NORM has 1 value

    IBMPFD1 R95G
    CMT2Y G97E
    IBMPFD1 I126F
    IBMPFD1 R155C
    ALS14 R155H
    IBMPFD1 R155P
    IBMPFD1 R155S
    ALS14 R159G
    IBMPFD1 R159H
    CMT2Y E185K
    ALS14 R191Q
    NORM L198W
    IBMPFD1 A232E
    ALS14 D592N


  82. TM230_HUMAN

    TM230_HUMAN protein sequence analysis

    TM230_HUMAN polymorphic protein sequence analysis

    PARK has 2 values

    PARK Y29C
    PARK R78L


  83. TRIM9_HUMAN

    TRIM9_HUMAN protein sequence analysis

    TRIM9_HUMAN has no polymorphisms



  84. TRPM7_HUMAN

    TRPM7_HUMAN protein sequence analysis

    TRPM7_HUMAN polymorphic protein sequence analysis

    an has 1 value
    breast has 1 value
    channels has 1 value
    gastric has 1 value

    an S406C
    breast T720S
    gastric M830V
    channels T1482I


  85. TY3H_HUMAN

    TY3H_HUMAN protein sequence analysis

    TY3H_HUMAN polymorphic protein sequence analysis

    polymorphism has 1 value
    ARSEGS has 38 values
    in has 1 value

    in S19C
    polymorphism V112M
    ARSEGS C207Y
    ARSEGS D227G
    ARSEGS R233H
    ARSEGS L236P
    ARSEGS A241T
    ARSEGS H246Y
    ARSEGS G247S
    ARSEGS P251L
    ARSEGS E259G
    ARSEGS T276P
    ARSEGS C279F
    ARSEGS G294R
    ARSEGS R296Q
    ARSEGS P301A
    ARSEGS F309S
    ARSEGS T314M
    ARSEGS G315S
    ARSEGS R319P
    ARSEGS R328W
    ARSEGS R337H
    ARSEGS C359F
    ARSEGS F375L
    ARSEGS A376V
    ARSEGS I382T
    ARSEGS A385V
    ARSEGS L387M
    ARSEGS I394T
    ARSEGS T399M
    ARSEGS G408R
    ARSEGS Q412K
    ARSEGS G414R
    ARSEGS G428R
    ARSEGS R441P
    ARSEGS S467G
    ARSEGS P492L
    ARSEGS T494M
    ARSEGS D498G
    ARSEGS L510Q


  86. UCHL1_HUMAN

    UCHL1_HUMAN protein sequence analysis

    UCHL1_HUMAN polymorphic protein sequence analysis

    NDGOA has 1 value
    NORM has 1 value
    PARK5 has 1 value

    NDGOA E7A
    NORM S18Y
    PARK5 I93M


  87. VP13C_HUMAN

    VP13C_HUMAN protein sequence analysis

    VP13C_HUMAN polymorphic protein sequence analysis

    PARK23 has 1 value

    PARK23 G1389R


  88. VPS35_HUMAN

    VPS35_HUMAN protein sequence analysis

    VPS35_HUMAN polymorphic protein sequence analysis

    PARK17 has 1 value
    in has 3 values

    in I241M
    in P316S
    in R524W
    PARK17 D620N


  89. VPS41_HUMAN

    VPS41_HUMAN protein sequence analysis

    VPS41_HUMAN polymorphic protein sequence analysis

    interaction has 1 value

    interaction T146P


  90. WIPI4_HUMAN

    WIPI4_HUMAN protein sequence analysis

    WIPI4_HUMAN has no polymorphisms



  91. XPR1_HUMAN

    XPR1_HUMAN protein sequence analysis

    XPR1_HUMAN polymorphic protein sequence analysis

    IBGC6 has 4 values

    IBGC6 S136N
    IBGC6 L140P
    IBGC6 L145P
    IBGC6 L218S


  92. ZN746_HUMAN

    ZN746_HUMAN protein sequence analysis

    ZN746_HUMAN has no polymorphisms



  93. ZNT10_HUMAN

    ZNT10_HUMAN protein sequence analysis

    ZNT10_HUMAN polymorphic protein sequence analysis

    HMNDYT1 has 2 values

    HMNDYT1 L89P
    HMNDYT1 L349P