Results for the protein: P35527

Results for the Protein: P35527

239938886

3857

KRT9

NCBI, UniProt

K1C9_HUMAN RecName: Full=Keratin, type I cytoskeletal 9; AltName: Full=Cytokeratin-9; Short=CK-9; AltName: Full=Keratin-9; Short=K9

Known Diseases associated with this Protein:
  KERATODERMA, PALMOPLANTAR, EPIDERMOLYTIC (EPPK)
  PALMOPLANTAR KERATODERMA, EPIDERMOLYTIC
  PALMOPLANTAR KERATODERMA, EPIDERMOLYTIC, WITH KNUCKLE PADS
  PALMOPLANTAR KERATODERMA, EPIDERMOLYTIC, WITH KNUCKLE PADS, INCLUDED

30

0

13

0

17

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Default View: Filament - pfam00038	Swiss-Prot Protein: P35527 Identical to: NP_000217 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_003823	Disease	p.ARG163GLN	Keratoderma, palmoplantar, epidermolytic (EPPK)
Swiss-Prot	VAR_036808	Disease	p.ARG163PRO	Keratoderma, palmoplantar, epidermolytic (EPPK)
Swiss-Prot	VAR_003824	Disease	p.ARG163TRP	Keratoderma, palmoplantar, epidermolytic (EPPK)
Swiss-Prot	VAR_036806	Disease	p.ASN161HIS	Keratoderma, palmoplantar, epidermolytic (EPPK)
Swiss-Prot	VAR_036807	Disease	p.ASN161ILE	Keratoderma, palmoplantar, epidermolytic (EPPK)
Swiss-Prot	VAR_003822	Disease	p.ASN161LYS	Keratoderma, palmoplantar, epidermolytic (EPPK)
Swiss-Prot	VAR_010502	Disease	p.ASN161SER	Keratoderma, palmoplantar, epidermolytic (EPPK)
Swiss-Prot	VAR_010503	Disease	p.ASN161TYR	Keratoderma, palmoplantar, epidermolytic (EPPK)
Swiss-Prot	VAR_010504	Disease	p.GLN172PRO	Keratoderma, palmoplantar, epidermolytic (EPPK)
Swiss-Prot	VAR_035438	Disease	p.LEU160PHE	Keratoderma, palmoplantar, epidermolytic (EPPK)
Swiss-Prot	VAR_036810	Disease	p.LEU458PHE	Keratoderma, palmoplantar, epidermolytic (EPPK)
Swiss-Prot	VAR_003825	Disease	p.LEU168SER	Keratoderma, palmoplantar, epidermolytic (EPPK)
Swiss-Prot	VAR_010501	Disease	p.LEU160VAL	Keratoderma, palmoplantar, epidermolytic (EPPK)
Swiss-Prot	VAR_036805	Disease	p.MET157ARG	Keratoderma, palmoplantar, epidermolytic (EPPK)
Swiss-Prot	VAR_010499	Disease	p.MET157THR	Keratoderma, palmoplantar, epidermolytic (EPPK)
Swiss-Prot	VAR_010500	Disease	p.MET157VAL	Keratoderma, palmoplantar, epidermolytic (EPPK)
Swiss-Prot	VAR_035439	Disease	p.VAL171MET	Keratoderma, palmoplantar, epidermolytic (EPPK)
OMIM	607606.0005	Disease	p.ARG163GLN	PALMOPLANTAR KERATODERMA, EPIDERMOLYTIC
OMIM	607606.0001	Disease	p.ARG163TRP	PALMOPLANTAR KERATODERMA, EPIDERMOLYTIC\|\|PALMOPLANTAR KERATODERMA, EPIDERMOLYTIC, WITH KNUCKLE PADS, INCLUDED
OMIM	607606.0013	Disease	p.ASN161ILE	PALMOPLANTAR KERATODERMA, EPIDERMOLYTIC, WITH KNUCKLE PADS
OMIM	607606.0004	Disease	p.ASN161LYS	PALMOPLANTAR KERATODERMA, EPIDERMOLYTIC
OMIM	607606.0007	Disease	p.ASN161SER	PALMOPLANTAR KERATODERMA, EPIDERMOLYTIC
OMIM	607606.0003	Disease	p.ASN161TYR	PALMOPLANTAR KERATODERMA, EPIDERMOLYTIC
OMIM	607606.0002	Disease	p.GLN172PRO	PALMOPLANTAR KERATODERMA, EPIDERMOLYTIC
OMIM	607606.0012	Disease	p.LEU160PHE	PALMOPLANTAR KERATODERMA, EPIDERMOLYTIC, WITH KNUCKLE PADS
OMIM	607606.0008	Disease	p.LEU168SER	PALMOPLANTAR KERATODERMA, EPIDERMOLYTIC
OMIM	607606.0009	Disease	p.LEU160VAL	PALMOPLANTAR KERATODERMA, EPIDERMOLYTIC
OMIM	607606.0010	Disease	p.MET157THR	PALMOPLANTAR KERATODERMA, EPIDERMOLYTIC
OMIM	607606.0006	Disease	p.MET157VAL	PALMOPLANTAR KERATODERMA, EPIDERMOLYTIC
OMIM	607606.0011	Disease	p.VAL171MET	PALMOPLANTAR KERATODERMA, EPIDERMOLYTIC

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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