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Results for the Protein: P08779
23503075

K1C16_HUMAN RecName: Full=Keratin, type I cytoskeletal 16; AltName: Full=Cytokeratin-16; Short=CK-16; AltName: Full=Keratin-16; Short=K16

Known Diseases associated with this Protein:
  KERATODERMA, PALMOPLANTAR, NON-EPIDERMOLYTIC, FOCAL (FNEPPK)
  PACHYONYCHIA CONGENITA 1 (PC1)
  PACHYONYCHIA CONGENITA TARDA, TYPE 1
  PACHYONYCHIA CONGENITA, TYPE 1
  PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC, FOCAL
18
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9
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9
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Filament - pfam00038


Swiss-Prot Protein: P08779
Identical to: NP_005548
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Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
Filamentpfam000385.3e-185116427

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_009184Diseasep.ARG127CYSKeratoderma, palmoplantar, non-epidermolytic, focal (FNEPPK)
Swiss-ProtVAR_012856Diseasep.ARG127PROPachyonychia congenita 1 (PC1)
Swiss-ProtVAR_009183Diseasep.ASN125SERKeratoderma, palmoplantar, non-epidermolytic, focal (FNEPPK)
Swiss-ProtVAR_012855Diseasep.GLN122PROPachyonychia congenita 1 (PC1)
Swiss-ProtVAR_013837Diseasep.LEU124ARGPachyonychia congenita 1 (PC1)
Swiss-ProtVAR_017066Diseasep.LEU128GLNPachyonychia congenita 1 (PC1)
Swiss-ProtVAR_003846Diseasep.LEU132PROPachyonychia congenita 1 (PC1)
Swiss-ProtVAR_017067Diseasep.LYS354ASNPachyonychia congenita 1 (PC1)
Swiss-ProtVAR_017065Diseasep.MET121THRPachyonychia congenita 1 (PC1)
OMIM148067.0002 Diseasep.ARG127CYSPALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC, FOCAL
OMIM148067.0005 Diseasep.ARG127PROPACHYONYCHIA CONGENITA, TYPE 1
OMIM148067.0003 Diseasep.ASN125SERPALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC, FOCAL
OMIM148067.0006 Diseasep.GLN122PROPACHYONYCHIA CONGENITA, TYPE 1
OMIM148067.0007 Diseasep.LEU124ARGPACHYONYCHIA CONGENITA, TYPE 1
OMIM148067.0010 Diseasep.LEU128GLNPACHYONYCHIA CONGENITA, TYPE 1
OMIM148067.0001 Diseasep.LEU132PROPACHYONYCHIA CONGENITA, TYPE 1
OMIM148067.0008 Diseasep.LYS354ASNPACHYONYCHIA CONGENITA TARDA, TYPE 1
OMIM148067.0009 Diseasep.MET121THRPACHYONYCHIA CONGENITA, TYPE 1



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