Results for the protein: Q99456

Results for the Protein: Q99456

2497269

3859

KRT12

NCBI, UniProt

K1C12_HUMAN RecName: Full=Keratin, type I cytoskeletal 12; AltName: Full=Cytokeratin-12; Short=CK-12; AltName: Full=Keratin-12; Short=K12

Known Diseases associated with this Protein:
CORNEAL DYSTROPHY, MEESMANN (MECD)
MEESMANN CORNEAL DYSTROPHY

19

2

7

2

12

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Default View: Filament - pfam00038	Swiss-Prot Protein: Q99456 Identical to: NP_000214 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_031395	Disease	p.ALA137PRO	Corneal dystrophy, Meesmann (MECD)
Swiss-Prot	VAR_008526	Disease	p.ARG135GLY	Corneal dystrophy, Meesmann (MECD)
Swiss-Prot	VAR_008525	Disease	p.ARG135ILE	Corneal dystrophy, Meesmann (MECD)
Swiss-Prot	VAR_031394	Disease	p.ARG135SER	Corneal dystrophy, Meesmann (MECD)
Swiss-Prot	VAR_003834	Disease	p.ARG135THR	Corneal dystrophy, Meesmann (MECD)
dbSNP	rs17566772	Polymorphism	p.ARG20TRP	N/A
Swiss-Prot	VAR_013127	Disease	p.GLN130PRO	Corneal dystrophy, Meesmann (MECD)
Swiss-Prot	VAR_031397	Disease	p.ILE426SER	Corneal dystrophy, Meesmann (MECD)
Swiss-Prot	VAR_008527	Disease	p.LEU140ARG	Corneal dystrophy, Meesmann (MECD)
Swiss-Prot	VAR_013126	Disease	p.MET129THR	Corneal dystrophy, Meesmann (MECD)
dbSNP	rs11650915	Polymorphism	p.PRO15SER	N/A
Swiss-Prot	VAR_008528	Disease	p.TYR429ASP	Corneal dystrophy, Meesmann (MECD)
Swiss-Prot	VAR_031398	Disease	p.TYR429CYS	Corneal dystrophy, Meesmann (MECD)
Swiss-Prot	VAR_003835	Disease	p.VAL143LEU	Corneal dystrophy, Meesmann (MECD)
OMIM	601687.0003	Disease	p.ARG135GLY	MEESMANN CORNEAL DYSTROPHY
OMIM	601687.0004	Disease	p.ARG135ILE	MEESMANN CORNEAL DYSTROPHY
OMIM	601687.0001	Disease	p.ARG135THR	MEESMANN CORNEAL DYSTROPHY
OMIM	601687.0006	Disease	p.LEU140ARG	MEESMANN CORNEAL DYSTROPHY
OMIM	601687.0007	Disease	p.MET129THR	MEESMANN CORNEAL DYSTROPHY
OMIM	601687.0005	Disease	p.TYR429ASP	MEESMANN CORNEAL DYSTROPHY
OMIM	601687.0002	Disease	p.VAL143LEU	MEESMANN CORNEAL DYSTROPHY

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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