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Results for the Protein: Q92734
223634676
TFG

TFG_HUMAN RecName: Full=Protein TFG; AltName: Full=TRK-fused gene protein

Known Diseases associated with this Protein:
  HEREDITARY MOTOR AND SENSORY NEUROPATHY, PROXIMAL TYPE
  HEREDITARY MOTOR AND SENSORY NEUROPATHY, PROXIMAL TYPE (HMSNP)
2
4
1
0
5
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Default View:

PB1 - smart00666
PB1 - pfam00564
PB1_p62 - cd06402
PB1_TFG - cd06401
PB1 - cd05992




Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
PB1cd059927.5e-211191
PB1_TFGcd064013.8e-581191
PB1_p62cd064020.000221193
PB1pfam005642.5e-191091
PB1smart006661.8e-221089

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_035668Polymorphismp.ALA149SERN/A
Swiss-ProtVAR_054322Polymorphismp.ALA211VALN/A
Swiss-ProtVAR_068917Diseasep.PRO285LEUHereditary motor and sensory neuropathy, proximal type (HMSNP)
Swiss-ProtVAR_054323Polymorphismp.THR364PRON/A
Swiss-ProtVAR_059731Polymorphismp.VAL43PHEN/A
OMIM602498.0001 Diseasep.PRO285LEUHEREDITARY MOTOR AND SENSORY NEUROPATHY, PROXIMAL TYPE



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