Results for the protein: Q16678

Results for the Protein: Q16678

48429256

1545

CYP1B1

NCBI, UniProt

CP1B1_HUMAN RecName: Full=Cytochrome P450 1B1; AltName: Full=CYPIB1

Known Diseases associated with this Protein:
  GLAUCOMA 3, PRIMARY CONGENITAL A
  GLAUCOMA 3, PRIMARY CONGENITAL, A
  GLAUCOMA 3, PRIMARY CONGENITAL, A (GLC3A)
  GLAUCOMA 3, PRIMARY CONGENITAL, A, INCLUDED
  GLAUCOMA, EARLY-ONSET, DIGENIC
  GLAUCOMA, PRIMARY CONGENITAL, A
  GLAUCOMA, PRIMARY OPEN ANGLE (POAG)
  GLAUCOMA, PRIMARY OPEN ANGLE, ADULT-ONSET
  GLAUCOMA, PRIMARY OPEN ANGLE, ADULT-ONSET, INCLUDED
  GLAUCOMA, PRIMARY OPEN ANGLE, JUVENILE-ONSET
  PETERS ANOMALY

53

19

12

5

55

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Default View:	Swiss-Prot Protein: Q16678 Identical to: NP_000095 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_018774	Disease	p.ALA443GLY	Glaucoma, primary open angle (POAG)
Swiss-Prot	VAR_054248	Polymorphism	p.ALA330PHE	N/A
Swiss-Prot	VAR_054230	Disease	p.ALA115PRO	Glaucoma 3, primary congenital, A (GLC3A)
Swiss-Prot	VAR_054237	Polymorphism	p.ALA189PRO	N/A
dbSNP	rs1056827	Polymorphism	p.ALA119SER	N/A
Swiss-Prot	VAR_054249	Polymorphism	p.ALA330SER	N/A
Swiss-Prot	VAR_054254	Disease	p.ALA388THR	Glaucoma 3, primary congenital, A (GLC3A)
Swiss-Prot	VAR_054255	Disease	p.ARG390CYS	Glaucoma 3, primary congenital, A (GLC3A)
Swiss-Prot	VAR_054261	Disease	p.ARG444GLN	Glaucoma 3, primary congenital, A (GLC3A)
dbSNP	rs10012	Polymorphism	p.ARG48GLY	N/A
Swiss-Prot	VAR_016034	Disease	p.ARG368HIS	Glaucoma 3, primary congenital, A (GLC3A)
Swiss-Prot	VAR_008353	Disease	p.ARG390HIS	Glaucoma 3, primary congenital, A (GLC3A)
Swiss-Prot	VAR_018870	Polymorphism	p.ARG266LEU	N/A
Swiss-Prot	VAR_054256	Disease	p.ARG390SER	Glaucoma 3, primary congenital, A (GLC3A)
Swiss-Prot	VAR_054267	Disease	p.ARG523THR	Glaucoma, primary open angle (POAG)
Swiss-Prot	VAR_054235	Disease	p.ARG145TRP	Glaucoma, primary open angle (POAG)
Swiss-Prot	VAR_001247	Disease	p.ARG469TRP	Glaucoma 3, primary congenital, A (GLC3A)
Swiss-Prot	VAR_054241	Disease	p.ASN203SER	Glaucoma 3, primary congenital, A (GLC3A)
dbSNP	rs1800440	Polymorphism	p.ASN453SER	N/A
Swiss-Prot	VAR_054260	Disease	p.ASN423TYR	Glaucoma, primary open angle (POAG)
Swiss-Prot	VAR_001246	Disease	p.ASP374ASN	Glaucoma 3, primary congenital, A (GLC3A)
Swiss-Prot	VAR_028738	Polymorphism	p.ASP449GLU	N/A
Swiss-Prot	VAR_054268	Disease	p.ASP530GLY	Glaucoma, primary open angle (POAG)
Swiss-Prot	VAR_028737	Polymorphism	p.ASP441HIS	N/A
Swiss-Prot	VAR_054238	Disease	p.ASP192VAL	Glaucoma 3, primary congenital, A (GLC3A)
Swiss-Prot	VAR_054234	Disease	p.GLN144ARG	Glaucoma 3, primary congenital, A (GLC3A)
Swiss-Prot	VAR_028735	Polymorphism	p.GLN68ARG	N/A
Swiss-Prot	VAR_054232	Polymorphism	p.GLN144HIS	N/A
Swiss-Prot	VAR_054233	Disease	p.GLN144PRO	Glaucoma 3, primary congenital, A (GLC3A)
Swiss-Prot	VAR_054264	Disease	p.GLU499GLY	Glaucoma 3, primary congenital, A (GLC3A)
Swiss-Prot	VAR_054243	Disease	p.GLU229LYS	Glaucoma, primary open angle (POAG)
Swiss-Prot	VAR_008352	Disease	p.GLU387LYS	Glaucoma, primary open angle (POAG)
Swiss-Prot	VAR_054244	Disease	p.GLY232ARG	Glaucoma, primary open angle (POAG)
Swiss-Prot	VAR_054263	Disease	p.GLY466ASP	Glaucoma 3, primary congenital, A (GLC3A)
Swiss-Prot	VAR_001244	Disease	p.GLY61GLU	Glaucoma, primary open angle (POAG)
Swiss-Prot	VAR_054236	Polymorphism	p.GLY184SER	N/A
Swiss-Prot	VAR_001245	Disease	p.GLY365TRP	Glaucoma 3, primary congenital, A (GLC3A)
Swiss-Prot	VAR_054257	Disease	p.ILE399SER	Glaucoma 3, primary congenital, A (GLC3A)
Swiss-Prot	VAR_054251	Disease	p.LEU345PHE	Glaucoma, primary open angle (POAG)
Swiss-Prot	VAR_054229	Disease	p.LEU77PRO	Glaucoma 3, primary congenital, A (GLC3A)
dbSNP	rs1056836	Polymorphism	p.LEU432VAL	N/A
Swiss-Prot	VAR_054231	Disease	p.MET132ARG	Glaucoma 3, primary congenital, A (GLC3A)
Swiss-Prot	VAR_054262	Disease	p.PHE445CYS	Glaucoma 3, primary congenital, A (GLC3A)
Swiss-Prot	VAR_054239	Disease	p.PRO193LEU	Glaucoma 3, primary congenital, A (GLC3A)
Swiss-Prot	VAR_008351	Polymorphism	p.PRO379LEU	N/A
Swiss-Prot	VAR_008354	Disease	p.PRO437LEU	Glaucoma 3, primary congenital, A (GLC3A)
Swiss-Prot	VAR_054228	Polymorphism	p.PRO52LEU	N/A
Swiss-Prot	VAR_054245	Disease	p.SER239ARG	Glaucoma 3, primary congenital, A (GLC3A)
dbSNP	rs9341248	Polymorphism	p.SER206ASN	N/A
Swiss-Prot	VAR_054242	Disease	p.SER215ILE	Glaucoma 3, primary congenital, A (GLC3A)
Swiss-Prot	VAR_054265	Polymorphism	p.SER515LEU	N/A
Swiss-Prot	VAR_054227	Disease	p.SER28TRP	Glaucoma, primary open angle (POAG)
Swiss-Prot	VAR_008350	Disease	p.TRP57CYS	Glaucoma, primary open angle (POAG)
Swiss-Prot	VAR_028736	Disease	p.TYR81ASN	Glaucoma, primary open angle (POAG)
Swiss-Prot	VAR_054266	Polymorphism	p.VAL518ALA	N/A
Swiss-Prot	VAR_054259	Polymorphism	p.VAL422GLY	N/A
Swiss-Prot	VAR_054240	Disease	p.VAL198ILE	Glaucoma 3, primary congenital, A (GLC3A)
Swiss-Prot	VAR_054247	Disease	p.VAL320LEU	Glaucoma 3, primary congenital, A (GLC3A)
Swiss-Prot	VAR_054253	Disease	p.VAL364MET	Glaucoma 3, primary congenital, A (GLC3A)
Swiss-Prot	VAR_054258	Disease	p.VAL409PHE	Glaucoma, primary open angle (POAG)
OMIM	601771.0012	Disease	p.ARG368HIS	GLAUCOMA, EARLY-ONSET, DIGENIC\|\|GLAUCOMA 3, PRIMARY CONGENITAL, A, INCLUDED
OMIM	601771.0006	Disease	p.ARG469TRP	GLAUCOMA 3, PRIMARY CONGENITAL, A
OMIM	601771.0016	Disease	p.ASN423TYR	GLAUCOMA, PRIMARY OPEN ANGLE, JUVENILE-ONSET\|\|GLAUCOMA 3, PRIMARY CONGENITAL, A, INCLUDED
OMIM	601771.0007	Disease	p.ASP374ASN	GLAUCOMA 3, PRIMARY CONGENITAL, A
OMIM	601771.0013	Disease	p.GLY232ARG	GLAUCOMA 3, PRIMARY CONGENITAL, A\|\|GLAUCOMA, PRIMARY OPEN ANGLE, ADULT-ONSET, INCLUDED
OMIM	601771.0003	Disease	p.GLY61GLU	GLAUCOMA 3, PRIMARY CONGENITAL, A
OMIM	601771.0005	Disease	p.GLY365TRP	GLAUCOMA, PRIMARY CONGENITAL, A
OMIM	601771.0008 601771.0014	Disease	p.LYS387GLU	GLAUCOMA 3, PRIMARY CONGENITAL, A\|\|GLAUCOMA, PRIMARY OPEN ANGLE, ADULT-ONSET, INCLUDED
OMIM	601771.0018	Disease	p.PHE261LEU	GLAUCOMA 3, PRIMARY CONGENITAL A
OMIM	601771.0019	Disease	p.PRO52LEU	GLAUCOMA, PRIMARY OPEN ANGLE, JUVENILE-ONSET
OMIM	601771.0010	Disease	p.TRP57TER	PETERS ANOMALY
OMIM	601771.0017	Disease	p.TYR81ASN	GLAUCOMA, PRIMARY OPEN ANGLE, ADULT-ONSET

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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