Home News About DMDM Database Statistics Research Publications Contact  

Results for the Protein: Q99958
3024149

FOXC2_HUMAN RecName: Full=Forkhead box protein C2; AltName: Full=Forkhead-related protein FKHL14; AltName: Full=Mesenchyme fork head protein 1; Short=MFH-1 protein; AltName: Full=Transcription factor FKH-14

Known Diseases associated with this Protein:
  LYMPHEDEMA-DISTICHIASIS (LYD)
  LYMPHEDEMA-DISTICHIASIS SYNDROME
4
1
3
0
2
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:

FH - smart00339
Fork_head - pfam00250
FH - cd00059


Swiss-Prot Protein: Q99958
Identical to: NP_005242
   Default View:





Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
FHcd000593.1e-6172149
Fork_headpfam002503.7e-7272167
FHsmart003393.2e-6372160

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_018418Diseasep.SER125LEULymphedema-distichiasis (LYD)
Swiss-ProtVAR_060950Polymorphismp.SER191PHEN/A
OMIM602402.0013 Diseasep.ARG121HISLYMPHEDEMA-DISTICHIASIS SYNDROME
OMIM602402.0012 Diseasep.SER125LEULYMPHEDEMA-DISTICHIASIS SYNDROME
OMIM602402.0001 Diseasep.TYR99TERLYMPHEDEMA-DISTICHIASIS SYNDROME



   |   1000 Hilltop Circle, Baltimore, MD 21250   |   Department of Biological Sciences   |   Phone: 410-455-2258