Results for the protein: Q7RTS7

Results for the Protein: Q7RTS7

166218812

121391

KRT74

NCBI, UniProt

K2C74_HUMAN RecName: Full=Keratin, type II cytoskeletal 74; AltName: Full=Cytokeratin-74; Short=CK-74; AltName: Full=Keratin-5c; Short=K5C; AltName: Full=Keratin-74; Short=K74; AltName: Full=Type II inner root sheath-specific keratin-K6irs4; AltName: Full=Type-II keratin Kb37

Known Diseases associated with this Protein:
  HYPOTRICHOSIS 3
  HYPOTRICHOSIS 3 (HYPT3)
  WOOLLY HAIR AUTOSOMAL DOMINANT (ADWH)
  WOOLLY HAIR, AUTOSOMAL DOMINANT

4

8

2

6

4

Tips:

The Domains on the Default View are decided by the Domain's E-Value.

Clicking a check box will display or hide the correlated domain.

To view the Gene page, either click on the link to the left or the blue bar above the Protein's graphic.

Default View: Filament - pfam00038	Swiss-Prot Protein: Q7RTS7 Identical to: NP_778223 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 ↕
dbSNP	rs75004274	Polymorphism	p.ALA487THR	N/A
Swiss-Prot	VAR_061299	Polymorphism	p.ARG392GLN	N/A
Swiss-Prot	VAR_063587	Disease	p.ASN148LYS	Woolly hair autosomal dominant (ADWH)
dbSNP	rs11170177	Polymorphism	p.ASN165LYS	N/A
dbSNP	rs73107581	Polymorphism	p.ASP149ASN	N/A
Swiss-Prot	VAR_065951	Disease	p.ASP482ASN	Hypotrichosis 3 (HYPT3)
dbSNP	rs73320318	Polymorphism	p.ASP225VAL	N/A
dbSNP	rs670741	Polymorphism	p.GLU271ASP	N/A
Swiss-Prot	VAR_061300	Polymorphism	p.GLU424LYS	N/A
dbSNP	rs11170176	Polymorphism	p.LEU178GLN	N/A
OMIM	608248.0001	Disease	p.ASN148LYS	WOOLLY HAIR, AUTOSOMAL DOMINANT
OMIM	608248.0003	Disease	p.ASP482ASN	HYPOTRICHOSIS 3

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.

DMDM_info@umbc.edu | 1000 Hilltop Circle, Baltimore, MD 21250 | Department of Biological Sciences | Phone: 410-455-2258