Results for the protein: Q04695

Results for the Protein: Q04695

547751

3872

KRT17

NCBI, UniProt

K1C17_HUMAN RecName: Full=Keratin, type I cytoskeletal 17; AltName: Full=39.1; AltName: Full=Cytokeratin-17; Short=CK-17; AltName: Full=Keratin-17; Short=K17

Known Diseases associated with this Protein:
  PACHYONYCHIA CONGENITA 2 (PC2)
  PACHYONYCHIA CONGENITA, TYPE 2
  PACHYONYCHIA CONGENITA, TYPE 2, INCLUDED
  STEATOCYSTOMA MULTIPLEX
  STEATOCYSTOMA MULTIPLEX (SM)

24

0

11

0

13

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Default View: Filament - pfam00038	Swiss-Prot Protein: Q04695 Identical to: NP_000413 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_010513	Disease	p.ARG94CYS	Steatocystoma multiplex (SM)
Swiss-Prot	VAR_003850	Disease	p.ARG94HIS	Steatocystoma multiplex (SM)
Swiss-Prot	VAR_017068	Disease	p.ARG94PRO	Pachyonychia congenita 2 (PC2)
Swiss-Prot	VAR_037083	Disease	p.ASN109ASP	Pachyonychia congenita 2 (PC2)
Swiss-Prot	VAR_003847	Disease	p.ASN92ASP	Pachyonychia congenita 2 (PC2)
Swiss-Prot	VAR_003848	Disease	p.ASN92HIS	Steatocystoma multiplex (SM)
Swiss-Prot	VAR_003849	Disease	p.ASN92SER	Pachyonychia congenita 2 (PC2)
Swiss-Prot	VAR_017070	Disease	p.LEU95GLN	Pachyonychia congenita 2 (PC2)
Swiss-Prot	VAR_017071	Disease	p.LEU95PRO	Pachyonychia congenita 2 (PC2)
Swiss-Prot	VAR_017073	Disease	p.LEU99PRO	Pachyonychia congenita 2 (PC2)
Swiss-Prot	VAR_010512	Disease	p.MET88THR	Steatocystoma multiplex (SM)
Swiss-Prot	VAR_003851	Disease	p.TYR98ASP	Pachyonychia congenita 2 (PC2)
Swiss-Prot	VAR_017074	Disease	p.VAL102MET	Pachyonychia congenita 2 (PC2)
OMIM	148069.0006	Disease	p.ARG94CYS	STEATOCYSTOMA MULTIPLEX\|\|PACHYONYCHIA CONGENITA, TYPE 2, INCLUDED
OMIM	148069.0005	Disease	p.ARG94HIS	STEATOCYSTOMA MULTIPLEX\|\|PACHYONYCHIA CONGENITA, TYPE 2, INCLUDED
OMIM	148069.0009	Disease	p.ARG94PRO	PACHYONYCHIA CONGENITA, TYPE 2
OMIM	148069.0001	Disease	p.ASN92ASP	PACHYONYCHIA CONGENITA, TYPE 2
OMIM	148069.0004	Disease	p.ASN92HIS	STEATOCYSTOMA MULTIPLEX
OMIM	148069.0002	Disease	p.ASN92SER	PACHYONYCHIA CONGENITA, TYPE 2
OMIM	148069.0010	Disease	p.LEU95GLN	PACHYONYCHIA CONGENITA, TYPE 2
OMIM	148069.0011	Disease	p.LEU95PRO	PACHYONYCHIA CONGENITA, TYPE 2
OMIM	148069.0007	Disease	p.MET88THR	PACHYONYCHIA CONGENITA, TYPE 2
OMIM	148069.0003	Disease	p.TYR98ASP	PACHYONYCHIA CONGENITA, TYPE 2
OMIM	148069.0014	Disease	p.VAL102MET	PACHYONYCHIA CONGENITA, TYPE 2

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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