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Results for the Protein: P13647
143811411

K2C5_HUMAN RecName: Full=Keratin, type II cytoskeletal 5; AltName: Full=58 kDa cytokeratin; AltName: Full=Cytokeratin-5; Short=CK-5; AltName: Full=Keratin-5; Short=K5; AltName: Full=Type-II keratin Kb5

Known Diseases associated with this Protein:
  DOWLING-DEGOS DISEASE 1
  EPIDERMOLYSIS BULLOSA SIMPLEX WITH MOTTLED PIGMENTATION
  EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE 1
  EPIDERMOLYSIS BULLOSA SIMPLEX, DOWLING-MEARA TYPE
  EPIDERMOLYSIS BULLOSA SIMPLEX, DOWLING-MEARA TYPE (DM-EBS)
  EPIDERMOLYSIS BULLOSA SIMPLEX, DOWLING-MEARA TYPE, WITH SEVERE PALMOPLANTAR
  EPIDERMOLYSIS BULLOSA SIMPLEX, GENERALIZED
  EPIDERMOLYSIS BULLOSA SIMPLEX, GENERALIZED, WITH SEVERE PALMOPLANTAR
  EPIDERMOLYSIS BULLOSA SIMPLEX, KOEBNER TYPE (K-EBS)
  EPIDERMOLYSIS BULLOSA SIMPLEX, LOCALIZED
  EPIDERMOLYSIS BULLOSA SIMPLEX, LOCALIZED, INCLUDED
  EPIDERMOLYSIS BULLOSA SIMPLEX, WEBER-COCKAYNE TYPE (WC-EBS)
  EPIDERMOLYSIS BULLOSA SIMPLEX, WITH MOTTLED PIGMENTATION (MP-EBS)
  KERATODERMA
  KERATOSIS
62
8
17
4
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Filament - pfam00038


Swiss-Prot Protein: P13647
Identical to: NP_000415
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Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
Filamentpfam000382.9e-176167480

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_023727Diseasep.ALA438ASPEpidermolysis bullosa simplex, Weber-Cockayne type (WC-EBS)
Swiss-ProtVAR_003875Diseasep.ARG331CYSEpidermolysis bullosa simplex, Weber-Cockayne type (WC-EBS)
Swiss-ProtVAR_027725Diseasep.ARG331HISEpidermolysis bullosa simplex, Weber-Cockayne type (WC-EBS)
Swiss-ProtVAR_027723Diseasep.ARG169PROEpidermolysis bullosa simplex, Dowling-Meara type (DM-EBS)
Swiss-ProtVAR_031644Diseasep.ARG352SEREpidermolysis bullosa simplex, Weber-Cockayne type (WC-EBS)
Swiss-ProtVAR_003873Diseasep.ASN193LYSEpidermolysis bullosa simplex, Weber-Cockayne type (WC-EBS)
Swiss-ProtVAR_010465Diseasep.ASN329LYSEpidermolysis bullosa simplex, Weber-Cockayne type (WC-EBS)
Swiss-ProtVAR_010457Diseasep.ASN176SEREpidermolysis bullosa simplex, Dowling-Meara type (DM-EBS)
Swiss-ProtVAR_026538Diseasep.ASN177SEREpidermolysis bullosa simplex, Weber-Cockayne type (WC-EBS)
dbSNPrs641615 Polymorphismp.ASP197GLUN/A
Swiss-ProtVAR_026542Diseasep.ASP328GLUEpidermolysis bullosa simplex, Weber-Cockayne type (WC-EBS)
Swiss-ProtVAR_026543Diseasep.ASP328GLYEpidermolysis bullosa simplex, Weber-Cockayne type (WC-EBS)
Swiss-ProtVAR_010463Diseasep.ASP328HISEpidermolysis bullosa simplex, Weber-Cockayne type (WC-EBS)
Swiss-ProtVAR_031641Diseasep.ASP158VALEpidermolysis bullosa simplex, Weber-Cockayne type (WC-EBS)
Swiss-ProtVAR_010464Diseasep.ASP328VALEpidermolysis bullosa simplex, Weber-Cockayne type (WC-EBS)
Swiss-ProtVAR_031643Diseasep.GLN191PROEpidermolysis bullosa simplex, Koebner type (K-EBS)
Swiss-ProtVAR_003877Diseasep.GLU475GLYEpidermolysis bullosa simplex, Dowling-Meara type (DM-EBS)
Swiss-ProtVAR_026536Diseasep.GLU167LYSEpidermolysis bullosa simplex, Weber-Cockayne type (WC-EBS)
Swiss-ProtVAR_027722Diseasep.GLU168LYSEpidermolysis bullosa simplex, Dowling-Meara type (DM-EBS)
Swiss-ProtVAR_026537Diseasep.GLU170LYSEpidermolysis bullosa simplex, Koebner type (K-EBS)
Swiss-ProtVAR_027724Diseasep.GLU190LYSEpidermolysis bullosa simplex, Weber-Cockayne type (WC-EBS)
Swiss-ProtVAR_026544Diseasep.GLU418LYSEpidermolysis bullosa simplex, Koebner type (K-EBS)
Swiss-ProtVAR_023728Diseasep.GLU475LYSEpidermolysis bullosa simplex, Dowling-Meara type (DM-EBS)
Swiss-ProtVAR_010467Diseasep.GLU477LYSEpidermolysis bullosa simplex, Dowling-Meara type (DM-EBS)
Swiss-ProtVAR_031645Diseasep.GLY517ASPEpidermolysis bullosa simplex, Koebner type (K-EBS)
dbSNPrs11549949 Polymorphismp.GLY543CYSN/A
dbSNPrs11170164 Polymorphismp.GLY138GLUN/A
Swiss-ProtVAR_028768Polymorphismp.GLY543SERN/A
Swiss-ProtVAR_003872Diseasep.ILE161SEREpidermolysis bullosa simplex, Weber-Cockayne type (WC-EBS)
Swiss-ProtVAR_010466Diseasep.ILE467THREpidermolysis bullosa simplex, Dowling-Meara type (DM-EBS)
Swiss-ProtVAR_010456Diseasep.LEU175PHEEpidermolysis bullosa simplex, Dowling-Meara type (DM-EBS)
Swiss-ProtVAR_026540Diseasep.LEU311PROEpidermolysis bullosa simplex, Weber-Cockayne type (WC-EBS)
Swiss-ProtVAR_010461Diseasep.LEU325PROEpidermolysis bullosa simplex, Koebner type (K-EBS)
Swiss-ProtVAR_003876Diseasep.LEU463PROEpidermolysis bullosa simplex, Koebner type (K-EBS)
Swiss-ProtVAR_010455Diseasep.LYS173ASNEpidermolysis bullosa simplex, Koebner type (K-EBS)
Swiss-ProtVAR_023726Diseasep.LYS404GLUEpidermolysis bullosa simplex, Weber-Cockayne type (WC-EBS)
Swiss-ProtVAR_026539Diseasep.LYS199THREpidermolysis bullosa simplex, Weber-Cockayne type (WC-EBS)
Swiss-ProtVAR_010462Diseasep.MET327LYSEpidermolysis bullosa simplex, Weber-Cockayne type (WC-EBS)
Swiss-ProtVAR_003874Diseasep.MET327THREpidermolysis bullosa simplex, Weber-Cockayne type (WC-EBS)
Swiss-ProtVAR_010458Diseasep.PHE179SEREpidermolysis bullosa simplex, Dowling-Meara type (DM-EBS)
Swiss-ProtVAR_010454Diseasep.PRO152LEUEpidermolysis bullosa simplex, Weber-Cockayne type (WC-EBS)
Swiss-ProtVAR_010453Diseasep.PRO25LEUEpidermolysis bullosa simplex, with mottled pigmentation (MP-EBS)
Swiss-ProtVAR_028763Polymorphismp.SER79ARGN/A
Swiss-ProtVAR_028765Polymorphismp.SER232ASNN/A
dbSNPrs11549950 Polymorphismp.SER528GLYN/A
Swiss-ProtVAR_010459Diseasep.SER181PROEpidermolysis bullosa simplex, Dowling-Meara type (DM-EBS)
Swiss-ProtVAR_028766Polymorphismp.SER387THRN/A
Swiss-ProtVAR_027726Diseasep.THR469PROEpidermolysis bullosa simplex, Dowling-Meara type (DM-EBS)
Swiss-ProtVAR_010460Diseasep.VAL323ALAEpidermolysis bullosa simplex, Koebner type (K-EBS)
Swiss-ProtVAR_031640Diseasep.VAL143ASPEpidermolysis bullosa simplex, Koebner type (K-EBS)
Swiss-ProtVAR_026541Diseasep.VAL324ASPEpidermolysis bullosa simplex, Weber-Cockayne type (WC-EBS)
Swiss-ProtVAR_013829Diseasep.VAL186LEUEpidermolysis bullosa simplex, Koebner type (K-EBS)
Swiss-ProtVAR_031642Diseasep.VAL186METEpidermolysis bullosa simplex, Koebner type (K-EBS)
OMIM148040.0007 Diseasep.ASN193LYSEPIDERMOLYSIS BULLOSA SIMPLEX, LOCALIZED
OMIM148040.0005 Diseasep.ASN329LYSEPIDERMOLYSIS BULLOSA SIMPLEX, LOCALIZED
OMIM148040.0001 Diseasep.GLU475GLYEPIDERMOLYSIS BULLOSA SIMPLEX, DOWLING-MEARA TYPE
OMIM148040.0020 Diseasep.GLU170LYSEPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE 1||EPIDERMOLYSIS BULLOSA SIMPLEX, LOCALIZED, INCLUDED
OMIM148040.0021 Diseasep.GLU418LYSEPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE 1
OMIM148040.0015 Diseasep.GLU477TEREPIDERMOLYSIS BULLOSA SIMPLEX, DOWLING-MEARA TYPE, WITH SEVERE PALMOPLANTAR||KERATODERMA
OMIM148040.0003 Diseasep.ILE161SEREPIDERMOLYSIS BULLOSA SIMPLEX, LOCALIZED
OMIM148040.0008 Diseasep.LEU174PHEEPIDERMOLYSIS BULLOSA SIMPLEX, DOWLING-MEARA TYPE
OMIM148040.0002 Diseasep.LEU462PROEPIDERMOLYSIS BULLOSA SIMPLEX, GENERALIZED
OMIM148040.0006 Diseasep.LYS173ASNEPIDERMOLYSIS BULLOSA SIMPLEX, GENERALIZED
OMIM148040.0016 Diseasep.LYS472TEREPIDERMOLYSIS BULLOSA SIMPLEX, GENERALIZED, WITH SEVERE PALMOPLANTAR||KERATOSIS
OMIM148040.0004 Diseasep.MET327THREPIDERMOLYSIS BULLOSA SIMPLEX, LOCALIZED
OMIM148040.0009 Diseasep.PRO25LEUEPIDERMOLYSIS BULLOSA SIMPLEX WITH MOTTLED PIGMENTATION
OMIM148040.0012 Diseasep.SER181PROEPIDERMOLYSIS BULLOSA SIMPLEX, DOWLING-MEARA TYPE
OMIM148040.0019 Diseasep.SER5TERDOWLING-DEGOS DISEASE 1
OMIM148040.0010 Diseasep.VAL7ALAEPIDERMOLYSIS BULLOSA SIMPLEX, GENERALIZED
OMIM148040.0014 Diseasep.VAL186LEUEPIDERMOLYSIS BULLOSA SIMPLEX, GENERALIZED



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