Results for the protein: O15528

Results for the Protein: O15528

3182968

1594

CYP27B1

NCBI, UniProt

CP27B_HUMAN RecName: Full=25-hydroxyvitamin D-1 alpha hydroxylase, mitochondrial; AltName: Full=25-OHD-1 alpha-hydroxylase; AltName: Full=25-hydroxyvitamin D(3) 1-alpha-hydroxylase; Short=VD3 1A hydroxylase; AltName: Full=Calcidiol 1-monooxygenase; AltName: Full=Cytochrome P450 subfamily XXVIIB polypeptide 1; AltName: Full=Cytochrome P450C1 alpha; AltName: Full=Cytochrome P450VD1-alpha; AltName: Full=Cytochrome p450 27B1; Flags: Precursor

Known Diseases associated with this Protein:
RICKETS VITAMIN D-DEPENDENT 1A (VDDR1A)
VITAMIN D HYDROXYLATION-DEFICIENT RICKETS, TYPE 1A

28

1

10

1

18

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Default View: CypX - COG2124 p450 - pfam00067	Swiss-Prot Protein: O15528 Identical to: NP_000776 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
p450	pfam00067	5.7e-90	43	505

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_016968	Disease	p.ARG389CYS	Rickets vitamin D-dependent 1A (VDDR1A)
Swiss-Prot	VAR_016972	Disease	p.ARG453CYS	Rickets vitamin D-dependent 1A (VDDR1A)
Swiss-Prot	VAR_016960	Disease	p.ARG389GLY	Rickets vitamin D-dependent 1A (VDDR1A)
Swiss-Prot	VAR_016952	Disease	p.ARG107HIS	Rickets vitamin D-dependent 1A (VDDR1A)
Swiss-Prot	VAR_016959	Disease	p.ARG389HIS	Rickets vitamin D-dependent 1A (VDDR1A)
Swiss-Prot	VAR_016956	Disease	p.ARG335PRO	Rickets vitamin D-dependent 1A (VDDR1A)
Swiss-Prot	VAR_016971	Disease	p.ARG429PRO	Rickets vitamin D-dependent 1A (VDDR1A)
Swiss-Prot	VAR_016969	Disease	p.GLN65HIS	Rickets vitamin D-dependent 1A (VDDR1A)
Swiss-Prot	VAR_016954	Disease	p.GLU189GLY	Rickets vitamin D-dependent 1A (VDDR1A)
Swiss-Prot	VAR_016967	Disease	p.GLU189LYS	Rickets vitamin D-dependent 1A (VDDR1A)
Swiss-Prot	VAR_016953	Disease	p.GLY125GLU	Rickets vitamin D-dependent 1A (VDDR1A)
Swiss-Prot	VAR_016957	Disease	p.LEU343PHE	Rickets vitamin D-dependent 1A (VDDR1A)
Swiss-Prot	VAR_016974	Disease	p.PRO497ARG	Rickets vitamin D-dependent 1A (VDDR1A)
Swiss-Prot	VAR_016958	Disease	p.PRO382SER	Rickets vitamin D-dependent 1A (VDDR1A)
Swiss-Prot	VAR_016970	Disease	p.SER323TYR	Rickets vitamin D-dependent 1A (VDDR1A)
Swiss-Prot	VAR_016955	Disease	p.THR321ARG	Rickets vitamin D-dependent 1A (VDDR1A)
Swiss-Prot	VAR_016961	Disease	p.THR409ILE	Rickets vitamin D-dependent 1A (VDDR1A)
Swiss-Prot	VAR_016973	Disease	p.VAL478GLY	Rickets vitamin D-dependent 1A (VDDR1A)
dbSNP	rs8176344	Polymorphism	p.VAL166LEU	N/A
OMIM	609506.0015	Disease	p.ARG389GLY	VITAMIN D HYDROXYLATION-DEFICIENT RICKETS, TYPE 1A
OMIM	609506.0001	Disease	p.ARG107HIS	VITAMIN D HYDROXYLATION-DEFICIENT RICKETS, TYPE 1A
OMIM	609506.0012	Disease	p.ARG389HIS	VITAMIN D HYDROXYLATION-DEFICIENT RICKETS, TYPE 1A
OMIM	609506.0003	Disease	p.ARG335PRO	VITAMIN D HYDROXYLATION-DEFICIENT RICKETS, TYPE 1A
OMIM	609506.0017	Disease	p.GLU189GLY	VITAMIN D HYDROXYLATION-DEFICIENT RICKETS, TYPE 1A
OMIM	609506.0002	Disease	p.GLY125GLU	VITAMIN D HYDROXYLATION-DEFICIENT RICKETS, TYPE 1A
OMIM	609506.0016	Disease	p.LEU343PHE	VITAMIN D HYDROXYLATION-DEFICIENT RICKETS, TYPE 1A
OMIM	609506.0004	Disease	p.PRO382SER	VITAMIN D HYDROXYLATION-DEFICIENT RICKETS, TYPE 1A
OMIM	609506.0009	Disease	p.THR321ARG	VITAMIN D HYDROXYLATION-DEFICIENT RICKETS, TYPE 1A
OMIM	609506.0011	Disease	p.THR409ILE	VITAMIN D HYDROXYLATION-DEFICIENT RICKETS, TYPE 1A

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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