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Results for the Protein: P07196
62511894

NFL_HUMAN RecName: Full=Neurofilament light polypeptide; Short=NF-L; AltName: Full=68 kDa neurofilament protein; AltName: Full=Neurofilament triplet L protein

Known Diseases associated with this Protein:
  CHARCOT-MARIE-TOOTH DISEASE 1F (CMT1F)
  CHARCOT-MARIE-TOOTH DISEASE 2E (CMT2E)
  CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E
  CHARCOT-MARIE-TOOTH DISEASE, TYPE 1F
  CHARCOT-MARIE-TOOTH DISEASE, TYPE 1F, INCLUDED
15
2
6
0
11
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Default View:

Filament_head - pfam04732
Filament - pfam00038


Swiss-Prot Protein: P07196
Identical to: NP_006149
   Default View:



Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
Filament_headpfam047322.8e-19988
Filamentpfam000381.7e-14089399

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_016023Diseasep.ASN98SERCharcot-Marie-Tooth disease 1F (CMT1F)
Swiss-ProtVAR_016024Polymorphismp.ASP468ASNN/A
Swiss-ProtVAR_009703Diseasep.GLN332PROCharcot-Marie-Tooth disease 2E (CMT2E)
Swiss-ProtVAR_021614Diseasep.GLU396LYSCharcot-Marie-Tooth disease 2E (CMT2E)
Swiss-ProtVAR_016017Polymorphismp.GLU7LYSN/A
Swiss-ProtVAR_016022Diseasep.GLU90LYSCharcot-Marie-Tooth disease 1F (CMT1F)
Swiss-ProtVAR_021613Diseasep.LEU336PROCharcot-Marie-Tooth disease 2E (CMT2E)
Swiss-ProtVAR_016020Diseasep.PRO8ARGCharcot-Marie-Tooth disease 2E (CMT2E)
Swiss-ProtVAR_016019Diseasep.PRO8GLNCharcot-Marie-Tooth disease 1F (CMT1F)
Swiss-ProtVAR_016018Diseasep.PRO8LEUCharcot-Marie-Tooth disease 1F (CMT1F)
Swiss-ProtVAR_016021Diseasep.PRO22SERCharcot-Marie-Tooth disease 2E (CMT2E)
OMIM162280.0001 Diseasep.GLN333PROCHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E
OMIM162280.0007 Diseasep.GLU140TERCHARCOT-MARIE-TOOTH DISEASE, TYPE 1F
OMIM162280.0008 Diseasep.GLU210TERCHARCOT-MARIE-TOOTH DISEASE, TYPE 1F
OMIM162280.0006 Diseasep.LEU94PROCHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E
OMIM162280.0003 Diseasep.PRO8ARGCHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E||CHARCOT-MARIE-TOOTH DISEASE, TYPE 1F, INCLUDED
OMIM162280.0002 Diseasep.PRO22SERCHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E



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