Results for the protein: P13647

Results for the Protein: P13647

143811411

3852

KRT5

NCBI, UniProt

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

49

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Default View: Filament - pfam00038	Swiss-Prot Protein: P13647 Identical to: NP_000415 Default View:

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-Prot	VAR_023727	Disease	p.ALA438ASP	Epidermolysis bullosa simplex, Weber-Cockayne type (WC-EBS)
Swiss-Prot	VAR_003875	Disease	p.ARG331CYS	Epidermolysis bullosa simplex, Weber-Cockayne type (WC-EBS)
Swiss-Prot	VAR_027725	Disease	p.ARG331HIS	Epidermolysis bullosa simplex, Weber-Cockayne type (WC-EBS)
Swiss-Prot	VAR_027723	Disease	p.ARG169PRO	Epidermolysis bullosa simplex, Dowling-Meara type (DM-EBS)
Swiss-Prot	VAR_031644	Disease	p.ARG352SER	Epidermolysis bullosa simplex, Weber-Cockayne type (WC-EBS)
Swiss-Prot	VAR_003873	Disease	p.ASN193LYS	Epidermolysis bullosa simplex, Weber-Cockayne type (WC-EBS)
Swiss-Prot	VAR_010465	Disease	p.ASN329LYS	Epidermolysis bullosa simplex, Weber-Cockayne type (WC-EBS)
Swiss-Prot	VAR_010457	Disease	p.ASN176SER	Epidermolysis bullosa simplex, Dowling-Meara type (DM-EBS)
Swiss-Prot	VAR_026538	Disease	p.ASN177SER	Epidermolysis bullosa simplex, Weber-Cockayne type (WC-EBS)
dbSNP	rs641615	Polymorphism	p.ASP197GLU	N/A
Swiss-Prot	VAR_026542	Disease	p.ASP328GLU	Epidermolysis bullosa simplex, Weber-Cockayne type (WC-EBS)
Swiss-Prot	VAR_026543	Disease	p.ASP328GLY	Epidermolysis bullosa simplex, Weber-Cockayne type (WC-EBS)
Swiss-Prot	VAR_010463	Disease	p.ASP328HIS	Epidermolysis bullosa simplex, Weber-Cockayne type (WC-EBS)
Swiss-Prot	VAR_031641	Disease	p.ASP158VAL	Epidermolysis bullosa simplex, Weber-Cockayne type (WC-EBS)
Swiss-Prot	VAR_010464	Disease	p.ASP328VAL	Epidermolysis bullosa simplex, Weber-Cockayne type (WC-EBS)
Swiss-Prot	VAR_031643	Disease	p.GLN191PRO	Epidermolysis bullosa simplex, Koebner type (K-EBS)
Swiss-Prot	VAR_003877	Disease	p.GLU475GLY	Epidermolysis bullosa simplex, Dowling-Meara type (DM-EBS)
Swiss-Prot	VAR_026536	Disease	p.GLU167LYS	Epidermolysis bullosa simplex, Weber-Cockayne type (WC-EBS)
Swiss-Prot	VAR_027722	Disease	p.GLU168LYS	Epidermolysis bullosa simplex, Dowling-Meara type (DM-EBS)
Swiss-Prot	VAR_026537	Disease	p.GLU170LYS	Epidermolysis bullosa simplex, Koebner type (K-EBS)
Swiss-Prot	VAR_027724	Disease	p.GLU190LYS	Epidermolysis bullosa simplex, Weber-Cockayne type (WC-EBS)
Swiss-Prot	VAR_026544	Disease	p.GLU418LYS	Epidermolysis bullosa simplex, Koebner type (K-EBS)
Swiss-Prot	VAR_023728	Disease	p.GLU475LYS	Epidermolysis bullosa simplex, Dowling-Meara type (DM-EBS)
Swiss-Prot	VAR_010467	Disease	p.GLU477LYS	Epidermolysis bullosa simplex, Dowling-Meara type (DM-EBS)
Swiss-Prot	VAR_031645	Disease	p.GLY517ASP	Epidermolysis bullosa simplex, Koebner type (K-EBS)
dbSNP	rs11549949	Polymorphism	p.GLY543CYS	N/A
dbSNP	rs11170164	Polymorphism	p.GLY138GLU	N/A
Swiss-Prot	VAR_028768	Polymorphism	p.GLY543SER	N/A
Swiss-Prot	VAR_003872	Disease	p.ILE161SER	Epidermolysis bullosa simplex, Weber-Cockayne type (WC-EBS)
Swiss-Prot	VAR_010466	Disease	p.ILE467THR	Epidermolysis bullosa simplex, Dowling-Meara type (DM-EBS)
Swiss-Prot	VAR_010456	Disease	p.LEU175PHE	Epidermolysis bullosa simplex, Dowling-Meara type (DM-EBS)
Swiss-Prot	VAR_026540	Disease	p.LEU311PRO	Epidermolysis bullosa simplex, Weber-Cockayne type (WC-EBS)
Swiss-Prot	VAR_010461	Disease	p.LEU325PRO	Epidermolysis bullosa simplex, Koebner type (K-EBS)
Swiss-Prot	VAR_003876	Disease	p.LEU463PRO	Epidermolysis bullosa simplex, Koebner type (K-EBS)
Swiss-Prot	VAR_010455	Disease	p.LYS173ASN	Epidermolysis bullosa simplex, Koebner type (K-EBS)
Swiss-Prot	VAR_023726	Disease	p.LYS404GLU	Epidermolysis bullosa simplex, Weber-Cockayne type (WC-EBS)
Swiss-Prot	VAR_026539	Disease	p.LYS199THR	Epidermolysis bullosa simplex, Weber-Cockayne type (WC-EBS)
Swiss-Prot	VAR_010462	Disease	p.MET327LYS	Epidermolysis bullosa simplex, Weber-Cockayne type (WC-EBS)
Swiss-Prot	VAR_003874	Disease	p.MET327THR	Epidermolysis bullosa simplex, Weber-Cockayne type (WC-EBS)
Swiss-Prot	VAR_010458	Disease	p.PHE179SER	Epidermolysis bullosa simplex, Dowling-Meara type (DM-EBS)
Swiss-Prot	VAR_010454	Disease	p.PRO152LEU	Epidermolysis bullosa simplex, Weber-Cockayne type (WC-EBS)
Swiss-Prot	VAR_010453	Disease	p.PRO25LEU	Epidermolysis bullosa simplex, with mottled pigmentation (MP-EBS)
Swiss-Prot	VAR_028763	Polymorphism	p.SER79ARG	N/A
Swiss-Prot	VAR_028765	Polymorphism	p.SER232ASN	N/A
dbSNP	rs11549950	Polymorphism	p.SER528GLY	N/A
Swiss-Prot	VAR_010459	Disease	p.SER181PRO	Epidermolysis bullosa simplex, Dowling-Meara type (DM-EBS)
Swiss-Prot	VAR_028766	Polymorphism	p.SER387THR	N/A
Swiss-Prot	VAR_027726	Disease	p.THR469PRO	Epidermolysis bullosa simplex, Dowling-Meara type (DM-EBS)
Swiss-Prot	VAR_010460	Disease	p.VAL323ALA	Epidermolysis bullosa simplex, Koebner type (K-EBS)
Swiss-Prot	VAR_031640	Disease	p.VAL143ASP	Epidermolysis bullosa simplex, Koebner type (K-EBS)
Swiss-Prot	VAR_026541	Disease	p.VAL324ASP	Epidermolysis bullosa simplex, Weber-Cockayne type (WC-EBS)
Swiss-Prot	VAR_013829	Disease	p.VAL186LEU	Epidermolysis bullosa simplex, Koebner type (K-EBS)
Swiss-Prot	VAR_031642	Disease	p.VAL186MET	Epidermolysis bullosa simplex, Koebner type (K-EBS)
OMIM	148040.0007	Disease	p.ASN193LYS	EPIDERMOLYSIS BULLOSA SIMPLEX, LOCALIZED
OMIM	148040.0005	Disease	p.ASN329LYS	EPIDERMOLYSIS BULLOSA SIMPLEX, LOCALIZED
OMIM	148040.0001	Disease	p.GLU475GLY	EPIDERMOLYSIS BULLOSA SIMPLEX, DOWLING-MEARA TYPE
OMIM	148040.0020	Disease	p.GLU170LYS	EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE 1\|\|EPIDERMOLYSIS BULLOSA SIMPLEX, LOCALIZED, INCLUDED
OMIM	148040.0021	Disease	p.GLU418LYS	EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE 1
OMIM	148040.0015	Disease	p.GLU477TER	EPIDERMOLYSIS BULLOSA SIMPLEX, DOWLING-MEARA TYPE, WITH SEVERE PALMOPLANTAR\|\|KERATODERMA
OMIM	148040.0003	Disease	p.ILE161SER	EPIDERMOLYSIS BULLOSA SIMPLEX, LOCALIZED
OMIM	148040.0008	Disease	p.LEU174PHE	EPIDERMOLYSIS BULLOSA SIMPLEX, DOWLING-MEARA TYPE
OMIM	148040.0002	Disease	p.LEU462PRO	EPIDERMOLYSIS BULLOSA SIMPLEX, GENERALIZED
OMIM	148040.0006	Disease	p.LYS173ASN	EPIDERMOLYSIS BULLOSA SIMPLEX, GENERALIZED
OMIM	148040.0016	Disease	p.LYS472TER	EPIDERMOLYSIS BULLOSA SIMPLEX, GENERALIZED, WITH SEVERE PALMOPLANTAR\|\|KERATOSIS
OMIM	148040.0004	Disease	p.MET327THR	EPIDERMOLYSIS BULLOSA SIMPLEX, LOCALIZED
OMIM	148040.0009	Disease	p.PRO25LEU	EPIDERMOLYSIS BULLOSA SIMPLEX WITH MOTTLED PIGMENTATION
OMIM	148040.0012	Disease	p.SER181PRO	EPIDERMOLYSIS BULLOSA SIMPLEX, DOWLING-MEARA TYPE
OMIM	148040.0019	Disease	p.SER5TER	DOWLING-DEGOS DISEASE 1
OMIM	148040.0010	Disease	p.VAL7ALA	EPIDERMOLYSIS BULLOSA SIMPLEX, GENERALIZED
OMIM	148040.0014	Disease	p.VAL186LEU	EPIDERMOLYSIS BULLOSA SIMPLEX, GENERALIZED

Please Cite: Peterson, T.A., Adadey, A., Santana-Cruz ,I., Sun, Y., Winder A, Kann, M.G., (2010) DMDM: Domain Mapping of Disease Mutations. Bioinformatics 26 (19), 2458-2459.

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