Results for the protein: P58012

Results for the Protein: P58012

13626838

668

FOXL2

NCBI, UniProt

FOXL2_HUMAN RecName: Full=Forkhead box protein L2

Known Diseases associated with this Protein:
  BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS
  BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS SYNDROME (BPES)
  BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS, TYPE I
  BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS, TYPE II, I
  PREMATURE OVARIAN FAILURE 3
  PREMATURE OVARIAN FAILURE 3 (POF3)

35

3

9

0

29

Tips:

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Default View: FH - smart00339 Fork_head - pfam00250 FH - cd00059	Swiss-Prot Protein: P58012 Identical to: NP_075555 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
Fork_head	pfam00250	5.3e-59	54	149
FH	smart00339	2.7e-59	54	142

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_021201	Polymorphism	p.ALA179GLY	N/A
Swiss-Prot	VAR_021197	Disease	p.ALA66VAL	Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES)
Swiss-Prot	VAR_046497	Disease	p.ARG103CYS	Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES)
Swiss-Prot	VAR_016886	Disease	p.ASN109LYS	Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES)
Swiss-Prot	VAR_021200	Disease	p.ASN105SER	Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES)
Swiss-Prot	VAR_062548	Polymorphism	p.CYS134TRP	N/A
Swiss-Prot	VAR_021198	Disease	p.GLU69LYS	Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES)
Swiss-Prot	VAR_015181	Disease	p.GLY187ASP	Premature ovarian failure 3 (POF3)
Swiss-Prot	VAR_021199	Disease	p.HIS104ARG	Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES)
Swiss-Prot	VAR_046492	Disease	p.ILE84ASN	Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES)
Swiss-Prot	VAR_016883	Disease	p.ILE84SER	Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES)
Swiss-Prot	VAR_046496	Disease	p.ILE102THR	Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES)
Swiss-Prot	VAR_062545	Disease	p.ILE63THR	Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES)
Swiss-Prot	VAR_046491	Disease	p.ILE80THR	Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES)
Swiss-Prot	VAR_016885	Disease	p.LEU106PHE	Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES)
Swiss-Prot	VAR_046498	Disease	p.LEU106PRO	Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES)
Swiss-Prot	VAR_062547	Disease	p.LEU108PRO	Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES)
Swiss-Prot	VAR_021202	Disease	p.LYS193ARG	Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES)
Swiss-Prot	VAR_046490	Disease	p.MET65VAL	Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES)
Swiss-Prot	VAR_046493	Disease	p.PHE90SER	Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES)
Swiss-Prot	VAR_015182	Polymorphism	p.PRO285SER	N/A
Swiss-Prot	VAR_046495	Disease	p.SER101ARG	Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES)
Swiss-Prot	VAR_062549	Disease	p.SER217CYS	Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES)
Swiss-Prot	VAR_021196	Disease	p.SER58LEU	Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES)
Swiss-Prot	VAR_016887	Disease	p.SER217PHE	Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES)
Swiss-Prot	VAR_062546	Disease	p.TRP98ARG	Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES)
Swiss-Prot	VAR_046494	Disease	p.TRP98GLY	Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES)
Swiss-Prot	VAR_021204	Disease	p.TYR258ASN	Premature ovarian failure 3 (POF3)
Swiss-Prot	VAR_021203	Disease	p.TYR215CYS	Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES)
OMIM	605597.0013	Disease	p.GLN196TER	BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS
OMIM	605597.0001	Disease	p.GLN219TER	BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS, TYPE I
OMIM	605597.0008	Disease	p.GLN53TER	BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS, TYPE I
OMIM	605597.0012	Disease	p.GLN99TER	BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS, TYPE I
OMIM	605597.0020	Disease	p.GLU69LYS	BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS, TYPE I
OMIM	605597.0019	Disease	p.GLY187ASP	PREMATURE OVARIAN FAILURE 3
OMIM	605597.0011	Disease	p.ILE84SER	BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS, TYPE I
OMIM	605597.0017	Disease	p.TYR258ASN	PREMATURE OVARIAN FAILURE 3
OMIM	605597.0009	Disease	p.TYR274TER	BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS, TYPE I\|\|BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS, TYPE II, I

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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