Results for the protein: Q6ZWL3

Results for the Protein: Q6ZWL3

296434466

285440

CYP4V2

NCBI, UniProt

CP4V2_HUMAN RecName: Full=Cytochrome P450 4V2

Known Diseases associated with this Protein:
BIETTI CRYSTALLINE CORNEORETINAL DYSTROPHY
BIETTI CRYSTALLINE CORNEORETINAL DYSTROPHY (BCD)

12

6

4

4

10

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Default View: CypX - COG2124 p450 - pfam00067	Swiss-Prot Protein: Q6ZWL3 Identical to: NP_997235 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
p450	pfam00067	4.5e-122	51	517

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_055381	Polymorphism	p.ARG443GLN	N/A
Swiss-Prot	VAR_023091	Disease	p.ARG508HIS	Bietti crystalline corneoretinal dystrophy (BCD)
dbSNP	rs13146272	Polymorphism	p.GLN259LYS	N/A
Swiss-Prot	VAR_023086	Disease	p.GLU79ASP	Bietti crystalline corneoretinal dystrophy (BCD)
dbSNP	rs34745240	Polymorphism	p.GLU275LYS	N/A
Swiss-Prot	VAR_023085	Disease	p.GLY61SER	Bietti crystalline corneoretinal dystrophy (BCD)
Swiss-Prot	VAR_023089	Disease	p.HIS331PRO	Bietti crystalline corneoretinal dystrophy (BCD)
Swiss-Prot	VAR_023087	Disease	p.ILE111THR	Bietti crystalline corneoretinal dystrophy (BCD)
dbSNP	rs1055138	Polymorphism	p.LEU22VAL	N/A
Swiss-Prot	VAR_023088	Disease	p.MET123VAL	Bietti crystalline corneoretinal dystrophy (BCD)
dbSNP	rs34331648	Polymorphism	p.SER213ASN	N/A
Swiss-Prot	VAR_023090	Disease	p.SER341PRO	Bietti crystalline corneoretinal dystrophy (BCD)
Swiss-Prot	VAR_023084	Disease	p.TRP44ARG	Bietti crystalline corneoretinal dystrophy (BCD)
Swiss-Prot	VAR_055380	Polymorphism	p.VAL372ILE	N/A
OMIM	608614.0003	Disease	p.ARG508HIS	BIETTI CRYSTALLINE CORNEORETINAL DYSTROPHY
OMIM	608614.0004	Disease	p.GLY61SER	BIETTI CRYSTALLINE CORNEORETINAL DYSTROPHY
OMIM	608614.0002	Disease	p.ILE111THR	BIETTI CRYSTALLINE CORNEORETINAL DYSTROPHY
OMIM	608614.0001	Disease	p.TRP44ARG	BIETTI CRYSTALLINE CORNEORETINAL DYSTROPHY

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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