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Results for the Protein: NP_066007
13491172
PRX

periaxin isoform 1 [Homo sapiens]

Known Diseases associated with this Protein:
  CHARCOT-MARIE-TOOTH DISEASE, TYPE 4F
  CHARCOT-MARIE-TOOTH DISEASE, TYPE 4F, LATE-ONSET
  DEJERINE-SOTTAS NEUROPATHY, AUTOSOMAL RECESSIVE
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Default View:

PDZ_signaling - cd00992
PDZ - smart00228


RefSeq Protein: NP_066007
   Default View:




Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
PDZsmart002283.4e-1017100

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
OMIM605725.0001 Diseasep.ARG1169TERDEJERINE-SOTTAS NEUROPATHY, AUTOSOMAL RECESSIVE
OMIM605725.0008 Diseasep.ARG1286TERCHARCOT-MARIE-TOOTH DISEASE, TYPE 4F
OMIM605725.0005 Diseasep.ARG412TERCHARCOT-MARIE-TOOTH DISEASE, TYPE 4F
OMIM605725.0003 Diseasep.ARG584TERDEJERINE-SOTTAS NEUROPATHY, AUTOSOMAL RECESSIVE
OMIM605725.0011 Diseasep.ASP867ASNCHARCOT-MARIE-TOOTH DISEASE, TYPE 4F, LATE-ONSET
OMIM605725.0006 Diseasep.CYS931TERCHARCOT-MARIE-TOOTH DISEASE, TYPE 4F



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