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Results for the Protein: Q9BXM7
48428484

PINK1_HUMAN RecName: Full=Serine/threonine-protein kinase PINK1, mitochondrial; AltName: Full=BRPK; AltName: Full=PTEN-induced putative kinase protein 1; Flags: Precursor

Known Diseases associated with this Protein:
  PARKINSON DISEASE 6 (PARK6)
  PARKINSON DISEASE 6, AUTOSOMAL RECESSIVE EARLY-ONSET
  PARKINSON DISEASE 6, EARLY-ONSET
  PARKINSON DISEASE 6, LATE-ONSET, SUSCEPTIBILITY TO
  PARKINSON DISEASE, AUTOSOMAL RECESSIVE EARLY-ONSET, DIGENIC, PINK1/DJ1
34
44
11
3
64
Tips:
 The Domains on the Default View are decided by the Domain's E-Value.

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Default View:

STKc_MAPKKK - cd06606
Pkinase_Tyr - pfam07714
TyrKc - smart00219
STYKc - smart00221
PKc - cd00180
S_TKc - smart00220
STKc_MOK - cd07831
STKc_MAPKKK_Byr2_lik - cd06628
PTKc - cd00192
STKc_CMGC - cd05118
STKc_PDK1 - cd05581
PKc_STE - cd05122
Pkinase - pfam00069
STKc_MEKK3_like - cd06625
STKc_AGC - cd05123
STKc_CDK_like - cd07829
STKc_Cdc7_like - cd06627
STKc_Nek3 - cd08219
STKc_Nek8 - cd08220
STKc_CDK4_6_like - cd07838
STKc_MAK_like - cd07830
STKc_Nek - cd08215
STKc_CCRK - cd07832
STKc_CNK2-like - cd08530
STKc_OSR1_SPAK - cd06610
STKc_PAK - cd06614
STKc_MAST_like - cd05579
STKc_MEKK1_plant - cd06632
STKc_Yank1 - cd05578


Swiss-Prot Protein: Q9BXM7
Identical to: NP_115785
   Default View:































Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
STKc_MAPKKKcd066061.9e-09155502
PKccd001801.1e-66162509
STKc_MOKcd078315.5e-05219509
PTKccd001926.2e-05221508
STKc_MAPKKK_Byr2_likcd066280.00037221509
STKc_CMGCcd051180.0002238545
STKc_PDK1cd055819.9e-05239512
PKc_STEcd051229.2e-05240500
STKc_AGCcd051231.8e-05243513
STKc_MEKK3_likecd066250.00014243509
STKc_CDK_likecd078292.6e-06245503
STKc_Cdc7_likecd066270.00074246502
STKc_Nek3cd082190.00015246509
STKc_Nek8cd082200.00034246508
STKc_CDK4_6_likecd078380.001247509
STKc_MAK_likecd078300.00069250509
STKc_CCRKcd078325.1e-05251510
STKc_Nekcd082158.7e-06251509
STKc_CNK2-likecd085300.00081251512
STKc_OSR1_SPAKcd066100.00035270512
STKc_PAKcd066140.00093280520
STKc_MAST_likecd055797.1e-05297500
STKc_MEKK1_plantcd066320.00035306502
STKc_Yank1cd055781e-05310512
Pkinasepfam000692.6e-09241512
Pkinase_Tyrpfam077142.4e-05156507
TyrKcsmart002194.9e-05156507
STYKcsmart002213.4e-06156509
S_TKcsmart002204.6e-11197511

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_046578Diseasep.ALA217ASPParkinson disease 6 (PARK6)
Swiss-ProtVAR_046575Diseasep.ALA168PROParkinson disease 6 (PARK6)
Swiss-ProtVAR_062774Diseasep.ALA280THRParkinson disease 6 (PARK6)
Swiss-ProtVAR_041014Polymorphismp.ALA339THRN/A
dbSNPrs3738136 Polymorphismp.ALA340THRN/A
Swiss-ProtVAR_046595Polymorphismp.ALA383THRN/A
Swiss-ProtVAR_046611Polymorphismp.ALA537THRN/A
Swiss-ProtVAR_046572Polymorphismp.ALA124VALN/A
Swiss-ProtVAR_046586Polymorphismp.ARG276GLNN/A
Swiss-ProtVAR_062778Diseasep.ARG407GLNParkinson disease 6 (PARK6)
dbSNPrs61744200 Polymorphismp.ARG501GLNN/A
Swiss-ProtVAR_046583Polymorphismp.ARG263GLYN/A
Swiss-ProtVAR_046574Polymorphismp.ARG147HISN/A
Swiss-ProtVAR_046587Diseasep.ARG279HISParkinson disease 6 (PARK6)
Swiss-ProtVAR_046605Diseasep.ARG464HISParkinson disease 6 (PARK6)
Swiss-ProtVAR_046608Polymorphismp.ARG501PRON/A
Swiss-ProtVAR_046567Polymorphismp.ARG68PRON/A
Swiss-ProtVAR_046569Polymorphismp.ARG98TRPN/A
Swiss-ProtVAR_046580Polymorphismp.ASN235ILEN/A
Swiss-ProtVAR_046603Polymorphismp.ASN451SERN/A
dbSNPrs1043424 Polymorphismp.ASN521THRN/A
Swiss-ProtVAR_046609Polymorphismp.ASP525ASNN/A
Swiss-ProtVAR_046594Polymorphismp.ASP362HISN/A
Swiss-ProtVAR_046596Diseasep.CYS388ARGParkinson disease 6 (PARK6)
Swiss-ProtVAR_046612Polymorphismp.CYS575ARGN/A
Swiss-ProtVAR_062773Diseasep.CYS125GLYParkinson disease 6 (PARK6)
Swiss-ProtVAR_041016Polymorphismp.CYS377PHEN/A
Swiss-ProtVAR_046568Diseasep.CYS92PHEParkinson disease 6 (PARK6)
Swiss-ProtVAR_046571Polymorphismp.GLN115LEUN/A
Swiss-ProtVAR_064344Diseasep.GLN126PROParkinson disease 6 (PARK6)
Swiss-ProtVAR_046579Polymorphismp.GLU231GLYN/A
Swiss-ProtVAR_046599Diseasep.GLU417GLYParkinson disease 6 (PARK6)
Swiss-ProtVAR_046581Diseasep.GLU240LYSParkinson disease 6 (PARK6)
Swiss-ProtVAR_046606Polymorphismp.GLU476LYSN/A
Swiss-ProtVAR_062776Diseasep.GLY386ALAParkinson disease 6 (PARK6)
Swiss-ProtVAR_018994Diseasep.GLY309ASPParkinson disease 6 (PARK6)
Swiss-ProtVAR_046598Polymorphismp.GLY411SERN/A
Swiss-ProtVAR_046597Polymorphismp.GLY395VALN/A
Swiss-ProtVAR_062779Diseasep.GLY409VALParkinson disease 6 (PARK6)
Swiss-ProtVAR_046585Diseasep.HIS271GLNParkinson disease 6 (PARK6)
Swiss-ProtVAR_046570Polymorphismp.ILE111SERN/A
Swiss-ProtVAR_046602Polymorphismp.ILE442THRN/A
Swiss-ProtVAR_046566Polymorphismp.LEU67PHEN/A
Swiss-ProtVAR_046593Diseasep.LEU347PROParkinson disease 6 (PARK6)
Swiss-ProtVAR_062775Diseasep.LEU369PROParkinson disease 6 (PARK6)
Swiss-ProtVAR_046607Diseasep.LEU489PROParkinson disease 6 (PARK6)
Swiss-ProtVAR_046604Polymorphismp.LEU461SERN/A
Swiss-ProtVAR_041010Polymorphismp.LEU148TRPN/A
Swiss-ProtVAR_046584Diseasep.LEU268VALParkinson disease 6 (PARK6)
Swiss-ProtVAR_046576Polymorphismp.LYS186ASNN/A
Swiss-ProtVAR_041015Polymorphismp.MET341ILEN/A
Swiss-ProtVAR_046591Polymorphismp.MET318LEUN/A
Swiss-ProtVAR_046577Diseasep.PRO196LEUParkinson disease 6 (PARK6)
Swiss-ProtVAR_041012Polymorphismp.PRO209LEUN/A
Swiss-ProtVAR_041013Polymorphismp.PRO215LEUN/A
Swiss-ProtVAR_046588Polymorphismp.PRO296LEUN/A
Swiss-ProtVAR_018993Polymorphismp.PRO305LEUN/A
Swiss-ProtVAR_046592Polymorphismp.PRO322LEUN/A
Swiss-ProtVAR_062777Diseasep.PRO399LEUParkinson disease 6 (PARK6)
Swiss-ProtVAR_041011Polymorphismp.PRO196SERN/A
Swiss-ProtVAR_046600Polymorphismp.PRO425SERN/A
Swiss-ProtVAR_041017Polymorphismp.SER477THRN/A
Swiss-ProtVAR_046582Polymorphismp.THR257ILEN/A
Swiss-ProtVAR_046573Polymorphismp.THR145METN/A
Swiss-ProtVAR_046589Diseasep.THR313METParkinson disease 6 (PARK6)
Swiss-ProtVAR_046601Polymorphismp.TYR431HISN/A
Swiss-ProtVAR_046590Polymorphismp.VAL317ILEN/A
OMIM608309.0011 Diseasep.ALA217ASPPARKINSON DISEASE 6, AUTOSOMAL RECESSIVE EARLY-ONSET
OMIM608309.0008 Diseasep.ARG279HISPARKINSON DISEASE 6, EARLY-ONSET
OMIM608309.0003 Diseasep.ARG246TERPARKINSON DISEASE 6, AUTOSOMAL RECESSIVE EARLY-ONSET
OMIM608309.0012 Diseasep.GLN456TERPARKINSON DISEASE 6, AUTOSOMAL RECESSIVE EARLY-ONSET
OMIM608309.0001 Diseasep.GLY309ASPPARKINSON DISEASE 6, AUTOSOMAL RECESSIVE EARLY-ONSET
OMIM608309.0004 Diseasep.HIS271GLNPARKINSON DISEASE 6, AUTOSOMAL RECESSIVE EARLY-ONSET
OMIM608309.0005 Diseasep.LEU347PROPARKINSON DISEASE 6, AUTOSOMAL RECESSIVE EARLY-ONSET
OMIM608309.0014 Diseasep.PRO399LEUPARKINSON DISEASE, AUTOSOMAL RECESSIVE EARLY-ONSET, DIGENIC, PINK1/DJ1
OMIM608309.0010 Diseasep.THR313METPARKINSON DISEASE 6, AUTOSOMAL RECESSIVE EARLY-ONSET
OMIM608309.0002 Diseasep.TRP437TERPARKINSON DISEASE 6, AUTOSOMAL RECESSIVE EARLY-ONSET
OMIM608309.0013 Diseasep.TYR431HISPARKINSON DISEASE 6, LATE-ONSET, SUSCEPTIBILITY TO



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