Results for the protein: P35908

Results for the Protein: P35908

239938650

3849

KRT2

NCBI, UniProt

K22E_HUMAN RecName: Full=Keratin, type II cytoskeletal 2 epidermal; AltName: Full=Cytokeratin-2e; Short=CK-2e; AltName: Full=Epithelial keratin-2e; AltName: Full=Keratin-2 epidermis; AltName: Full=Keratin-2e; Short=K2e; AltName: Full=Type-II keratin Kb2

Known Diseases associated with this Protein:
  ICHTHYOSIS BULLOSA OF SIEMENS
  ICHTHYOSIS BULLOSA OF SIEMENS (IBS)
  ICHTHYOSIS EXFOLIATIVA, INCLUDED

23

2

8

2

15

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Default View: Filament - pfam00038	Swiss-Prot Protein: P35908 Identical to: NP_000414 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_010515	Disease	p.ASN186ASP	Ichthyosis bullosa of Siemens (IBS)
Swiss-Prot	VAR_017829	Disease	p.ASN186LYS	Ichthyosis bullosa of Siemens (IBS)
Swiss-Prot	VAR_009185	Disease	p.ASN186TYR	Ichthyosis bullosa of Siemens (IBS)
Swiss-Prot	VAR_003865	Disease	p.GLN181PRO	Ichthyosis bullosa of Siemens (IBS)
Swiss-Prot	VAR_031082	Disease	p.GLU465ASP	Ichthyosis bullosa of Siemens (IBS)
Swiss-Prot	VAR_003866	Disease	p.GLU487ASP	Ichthyosis bullosa of Siemens (IBS)
Swiss-Prot	VAR_031083	Disease	p.GLU465LYS	Ichthyosis bullosa of Siemens (IBS)
Swiss-Prot	VAR_009186	Disease	p.GLU476LYS	Ichthyosis bullosa of Siemens (IBS)
Swiss-Prot	VAR_003867	Disease	p.GLU487LYS	Ichthyosis bullosa of Siemens (IBS)
Swiss-Prot	VAR_031086	Disease	p.GLU488LYS	Ichthyosis bullosa of Siemens (IBS)
Swiss-Prot	VAR_031084	Disease	p.GLU476VAL	Ichthyosis bullosa of Siemens (IBS)
dbSNP	rs638043	Polymorphism	p.GLY219ASP	N/A
Swiss-Prot	VAR_010514	Disease	p.ILE182ASN	Ichthyosis bullosa of Siemens (IBS)
Swiss-Prot	VAR_031085	Disease	p.ILE477ASN	Ichthyosis bullosa of Siemens (IBS)
Swiss-Prot	VAR_010516	Disease	p.LEU484PRO	Ichthyosis bullosa of Siemens (IBS)
dbSNP	rs2634041	Polymorphism	p.SER101GLY	N/A
Swiss-Prot	VAR_009187	Disease	p.THR479PRO	Ichthyosis bullosa of Siemens (IBS)
OMIM	600194.0007	Disease	p.ASN192ASP	ICHTHYOSIS BULLOSA OF SIEMENS
OMIM	600194.0008	Disease	p.ASN192LYS	ICHTHYOSIS BULLOSA OF SIEMENS
OMIM	600194.0005	Disease	p.ASN192TYR	ICHTHYOSIS BULLOSA OF SIEMENS
OMIM	600194.0003	Disease	p.GLN187PRO	ICHTHYOSIS BULLOSA OF SIEMENS
OMIM	600194.0001	Disease	p.GLU493ASP	ICHTHYOSIS BULLOSA OF SIEMENS
OMIM	600194.0006	Disease	p.GLU482LYS	ICHTHYOSIS BULLOSA OF SIEMENS
OMIM	600194.0002	Disease	p.GLU493LYS	ICHTHYOSIS BULLOSA OF SIEMENS\|\|ICHTHYOSIS EXFOLIATIVA, INCLUDED
OMIM	600194.0004	Disease	p.THR485PRO	ICHTHYOSIS BULLOSA OF SIEMENS

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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