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Results for the Protein: P48643
1351211

TCPE_HUMAN RecName: Full=T-complex protein 1 subunit epsilon; Short=TCP-1-epsilon; AltName: Full=CCT-epsilon

Known Diseases associated with this Protein:
  NEUROPATHY, HEREDITARY SENSORY, WITH SPASTIC PARAPLEGIA, AUTOSOMAL
  NEUROPATHY, HEREDITARY SENSORY, WITH SPASTIC PARAPLEGIA, AUTOSOMAL RECESSIVE (HSNSP)
  RECESSIVE
2
1
1
0
2
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Swiss-Prot Protein: P48643
Identical to: NP_036205
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Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_052267Polymorphismp.GLU146VALN/A
Swiss-ProtVAR_030658Diseasep.HIS147ARGNeuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive (HSNSP)
OMIM610150.0001 Diseasep.HIS147ARGNEUROPATHY, HEREDITARY SENSORY, WITH SPASTIC PARAPLEGIA, AUTOSOMAL||RECESSIVE



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