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Results for the Protein: Q18PE1
115311705

DOK7_HUMAN RecName: Full=Protein Dok-7; AltName: Full=Downstream of tyrosine kinase 7

Known Diseases associated with this Protein:
  MYASTHENIA, LIMB-GIRDLE, FAMILIAL
  MYASTHENIA, LIMB-GIRDLE, FAMILIAL (LGM)
21
16
2
6
29
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PH - cd00821
PTB_FRS2 - cd01202
IRS - pfam02174


Swiss-Prot Protein: Q18PE1
Identical to: NP_775931
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Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
PHcd008210.000587107
PTB_FRS2cd012020.00053107210
IRSpfam021742.8e-05111205

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_068772Polymorphismp.ALA440THRN/A
Swiss-ProtVAR_068752Diseasep.ALA33VALMyasthenia, limb-girdle, familial (LGM)
Swiss-ProtVAR_068755Polymorphismp.ALA99VALN/A
Swiss-ProtVAR_068769Polymorphismp.ARG323CYSN/A
Swiss-ProtVAR_031246Diseasep.ARG158GLNMyasthenia, limb-girdle, familial (LGM)
Swiss-ProtVAR_068771Polymorphismp.ARG402GLNN/A
dbSNPrs16844460 Polymorphismp.ARG261HISN/A
dbSNPrs16844470 Polymorphismp.ARG451TRPN/A
dbSNPrs16844422 Polymorphismp.ASP197ASNN/A
dbSNPrs6811423 Polymorphismp.GLN296ARGN/A
Swiss-ProtVAR_068750Diseasep.GLU3LYSMyasthenia, limb-girdle, familial (LGM)
Swiss-ProtVAR_068770Polymorphismp.GLU382LYSN/A
Swiss-ProtVAR_027544Diseasep.GLY180ALAMyasthenia, limb-girdle, familial (LGM)
Swiss-ProtVAR_068762Diseasep.GLY161ARGMyasthenia, limb-girdle, familial (LGM)
Swiss-ProtVAR_068763Diseasep.GLY166ARGMyasthenia, limb-girdle, familial (LGM)
Swiss-ProtVAR_068765Diseasep.GLY171ARGMyasthenia, limb-girdle, familial (LGM)
Swiss-ProtVAR_068766Diseasep.GLY172ARGMyasthenia, limb-girdle, familial (LGM)
Swiss-ProtVAR_050508Polymorphismp.GLY379ARGN/A
Swiss-ProtVAR_068764Diseasep.GLY171ASPMyasthenia, limb-girdle, familial (LGM)
Swiss-ProtVAR_027549Polymorphismp.GLY427ASPN/A
dbSNPrs9684786 Polymorphismp.GLY461ASPN/A
Swiss-ProtVAR_068756Diseasep.GLY109CYSMyasthenia, limb-girdle, familial (LGM)
Swiss-ProtVAR_068767Diseasep.GLY180VALMyasthenia, limb-girdle, familial (LGM)
Swiss-ProtVAR_068758Diseasep.HIS132GLNMyasthenia, limb-girdle, familial (LGM)
Swiss-ProtVAR_068768Polymorphismp.HIS272GLNN/A
Swiss-ProtVAR_068761Diseasep.LEU157ARGMyasthenia, limb-girdle, familial (LGM)
Swiss-ProtVAR_068773Diseasep.PRO469HISMyasthenia, limb-girdle, familial (LGM)
Swiss-ProtVAR_068760Diseasep.PRO146LEUMyasthenia, limb-girdle, familial (LGM)
dbSNPrs16844464 Polymorphismp.PRO415SERN/A
Swiss-ProtVAR_068751Diseasep.PRO31THRMyasthenia, limb-girdle, familial (LGM)
Swiss-ProtVAR_068774Polymorphismp.PRO503THRN/A
Swiss-ProtVAR_068753Polymorphismp.SER45LEUN/A
Swiss-ProtVAR_068754Diseasep.THR77METMyasthenia, limb-girdle, familial (LGM)
Swiss-ProtVAR_068759Diseasep.VAL139LEUMyasthenia, limb-girdle, familial (LGM)
Swiss-ProtVAR_068757Diseasep.VAL116METMyasthenia, limb-girdle, familial (LGM)
OMIM610285.0007 Diseasep.ARG201TERMYASTHENIA, LIMB-GIRDLE, FAMILIAL
OMIM610285.0006 Diseasep.GLY180ALAMYASTHENIA, LIMB-GIRDLE, FAMILIAL



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