Results for the protein: P04264

Results for the Protein: P04264

238054406

3848

KRT1

NCBI, UniProt

K2C1_HUMAN RecName: Full=Keratin, type II cytoskeletal 1; AltName: Full=67 kDa cytokeratin; AltName: Full=Cytokeratin-1; Short=CK-1; AltName: Full=Hair alpha protein; AltName: Full=Keratin-1; Short=K1; AltName: Full=Type-II keratin Kb1

Known Diseases associated with this Protein:
  EPIDERMOLYTIC HYPERKERATOSIS
  EPIDERMOLYTIC HYPERKERATOSIS (EHK)
  ICHTHYOSIS ANNULAR EPIDERMOLYTIC (AEI)
  ICHTHYOSIS, CYCLIC, WITH EPIDERMOLYTIC HYPERKERATOSIS
  KERATODERMA, PALMOPLANTAR, NON-EPIDERMOLYTIC (NEPPK)
  PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC

25

6

9

1

21

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Default View: Filament - pfam00038	Swiss-Prot Protein: P04264 Identical to: NP_006112 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_038628	Polymorphism	p.ALA454SER	N/A
Swiss-Prot	VAR_017821	Disease	p.ASN188LYS	Epidermolytic hyperkeratosis (EHK)
Swiss-Prot	VAR_003856	Disease	p.ASN188SER	Epidermolytic hyperkeratosis (EHK)
Swiss-Prot	VAR_017822	Disease	p.ASN188THR	Epidermolytic hyperkeratosis (EHK)
Swiss-Prot	VAR_017824	Disease	p.ASP340VAL	Epidermolytic hyperkeratosis (EHK)
Swiss-Prot	VAR_003861	Disease	p.GLU490GLN	Epidermolytic hyperkeratosis (EHK)
Swiss-Prot	VAR_003862	Polymorphism	p.GLY537CYS	N/A
Swiss-Prot	VAR_017825	Disease	p.ILE479PHE	Ichthyosis annular epidermolytic (AEI)
Swiss-Prot	VAR_003859	Polymorphism	p.ILE330THR	N/A
Swiss-Prot	VAR_017826	Disease	p.ILE479THR	Ichthyosis annular epidermolytic (AEI)
Swiss-Prot	VAR_003858	Polymorphism	p.ILE312VAL	N/A
Swiss-Prot	VAR_003854	Disease	p.LEU161PRO	Epidermolytic hyperkeratosis (EHK)
Swiss-Prot	VAR_017823	Disease	p.LEU214PRO	Epidermolytic hyperkeratosis (EHK)
Swiss-Prot	VAR_017828	Disease	p.LEU486PRO	Epidermolytic hyperkeratosis (EHK)
dbSNP	rs14024	Polymorphism	p.LYS633ARG	N/A
Swiss-Prot	VAR_017819	Disease	p.LYS74ILE	Keratoderma, palmoplantar, non-epidermolytic (NEPPK)
Swiss-Prot	VAR_003855	Disease	p.SER186PRO	Epidermolytic hyperkeratosis (EHK)
Swiss-Prot	VAR_003857	Disease	p.SER193PRO	Epidermolytic hyperkeratosis (EHK)
Swiss-Prot	VAR_003860	Polymorphism	p.TYR358ASN	N/A
Swiss-Prot	VAR_017827	Disease	p.TYR482CYS	Epidermolytic hyperkeratosis (EHK)
Swiss-Prot	VAR_017820	Disease	p.VAL155ASP	Epidermolytic hyperkeratosis (EHK)
Swiss-Prot	VAR_003853	Disease	p.VAL155GLY	Epidermolytic hyperkeratosis (EHK)
OMIM	139350.0008	Disease	p.ASN187LYS	EPIDERMOLYTIC HYPERKERATOSIS
OMIM	139350.0001	Disease	p.GLU310GLN	EPIDERMOLYTIC HYPERKERATOSIS
OMIM	139350.0006	Disease	p.ILE479PHE	ICHTHYOSIS, CYCLIC, WITH EPIDERMOLYTIC HYPERKERATOSIS
OMIM	139350.0005	Disease	p.ILE479THR	ICHTHYOSIS, CYCLIC, WITH EPIDERMOLYTIC HYPERKERATOSIS
OMIM	139350.0002	Disease	p.LEU160PRO	EPIDERMOLYTIC HYPERKERATOSIS
OMIM	139350.0009	Disease	p.LEU475PRO	EPIDERMOLYTIC HYPERKERATOSIS
OMIM	139350.0004	Disease	p.LYS73ILE	PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC
OMIM	139350.0003	Disease	p.TYR481CYS	EPIDERMOLYTIC HYPERKERATOSIS
OMIM	139350.0007	Disease	p.VAL155ASP	EPIDERMOLYTIC HYPERKERATOSIS

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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