Results for the protein: Q12948

Results for the Protein: Q12948

13638267

2296

FOXC1

NCBI, UniProt

FOXC1_HUMAN RecName: Full=Forkhead box protein C1; AltName: Full=Forkhead-related protein FKHL7; AltName: Full=Forkhead-related transcription factor 3; Short=FREAC-3

Known Diseases associated with this Protein:
  AXENFELD ANOMALY
  AXENFELD ANOMALY, INCLUDED;;
  AXENFELD-RIEGER ANOMALY
  AXENFELD-RIEGER SYNDROME 3 (RIEG3)
  AXENFELD-RIEGER SYNDROME, TYPE 3
  AXENFELD-RIEGER SYNDROME, TYPE 3, INCLUDED;;
  IRIDOGONIODYSGENESIS, TYPE 1
  PETERS ANOMALY (PAN)
  PETERS ANOMALY, INCLUDED
  RIEGER ANOMALY

11

17

9

0

19

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Default View: FH - smart00339 Fork_head - pfam00250 FH - cd00059	Swiss-Prot Protein: Q12948 Identical to: NP_001444 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
Fork_head	pfam00250	5e-72	78	173
FH	smart00339	2.6e-63	78	166

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_058729	Polymorphism	p.ARG127HIS	N/A
Swiss-Prot	VAR_058734	Polymorphism	p.ARG169PRO	N/A
Swiss-Prot	VAR_058733	Polymorphism	p.GLY165ARG	N/A
Swiss-Prot	VAR_058731	Polymorphism	p.GLY149ASP	N/A
Swiss-Prot	VAR_007816	Polymorphism	p.ILE126MET	N/A
Swiss-Prot	VAR_007945	Polymorphism	p.ILE87MET	N/A
Swiss-Prot	VAR_058726	Polymorphism	p.ILE91SER	N/A
Swiss-Prot	VAR_058727	Polymorphism	p.ILE91THR	N/A
Swiss-Prot	VAR_058730	Disease	p.LEU130PHE	Axenfeld-Rieger syndrome 3 (RIEG3)
Swiss-Prot	VAR_058725	Polymorphism	p.LEU86PHE	N/A
Swiss-Prot	VAR_018150	Polymorphism	p.MET161LYS	N/A
Swiss-Prot	VAR_058732	Polymorphism	p.MET161VAL	N/A
Swiss-Prot	VAR_007815	Disease	p.PHE112SER	Peters anomaly (PAN)
Swiss-Prot	VAR_058723	Polymorphism	p.PRO79ARG	N/A
Swiss-Prot	VAR_058722	Polymorphism	p.PRO79LEU	N/A
Swiss-Prot	VAR_058724	Polymorphism	p.PRO79THR	N/A
Swiss-Prot	VAR_007817	Polymorphism	p.SER131LEU	N/A
Swiss-Prot	VAR_007944	Polymorphism	p.SER82THR	N/A
Swiss-Prot	VAR_058728	Polymorphism	p.TYR115SER	N/A
OMIM	601090.0011	Disease	p.GLN120TER	AXENFELD-RIEGER SYNDROME, TYPE 3\|\|PETERS ANOMALY, INCLUDED
OMIM	601090.0005	Disease	p.GLN23TER	AXENFELD-RIEGER SYNDROME, TYPE 3
OMIM	601090.0003	Disease	p.ILE126MET	AXENFELD ANOMALY
OMIM	601090.0009	Disease	p.ILE87MET	AXENFELD-RIEGER ANOMALY
OMIM	601090.0010	Disease	p.LEU130PHE	AXENFELD-RIEGER SYNDROME, TYPE 3
OMIM	601090.0004	Disease	p.PHE112SER	RIEGER ANOMALY\|\|AXENFELD ANOMALY, INCLUDED;;\|\|AXENFELD-RIEGER SYNDROME, TYPE 3, INCLUDED;;\|\|PETERS ANOMALY, INCLUDED
OMIM	601090.0012	Disease	p.PRO297SER	IRIDOGONIODYSGENESIS, TYPE 1
OMIM	601090.0002	Disease	p.SER131LEU	RIEGER ANOMALY
OMIM	601090.0008	Disease	p.SER82THR	AXENFELD-RIEGER SYNDROME, TYPE 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.

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