Variant position: 390 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 543 The length of the canonical sequence.
Location on the sequence:
The residue change on the sequence. Unless the variant is located at the beginning or at the end of the protein sequence, both residues upstream (20) and downstream (20) of the variant will be shown.
Residue conservation: The multiple alignment of the region surrounding the variant against various orthologous sequences.
Human PCMGDQPNLPYVLAFLYEAM RFSSFVPVTIPHATTANTSVL
Mouse PCMSDQPNLPYVMAFLYESM RFSSFLPVTIPHATTANTFVL
Rat PCMSDQPNLPYVMAFLYESM RFTSFLPVTLPHATTANTFVL
Sequence annotation in neighborhood: The regions or sites of interest surrounding the variant. In general the features listed are posttranslational modifications, binding sites, enzyme active sites, local secondary structure or other characteristics reported in the cited references. The "Sequence annotation in neighborhood" lines have a fixed format:
Type: the type of sequence feature. Positions: endpoints of the sequence feature. Description: contains additional information about the feature.
Type Positions Description
1 – 543 Cytochrome P450 1B1
395 – 395 Major determinant of CYP1B1 17beta-estradiol hydroxylation regiospecificity
395 – 395 V -> L. Invertes the 4OH E2:2OH E2 hydroxylation preference from 5.1 to 0.45.
379 – 392
Sequence analysis and homology modeling suggest that primary congenital glaucoma on 2p21 results from mutations disrupting either the hinge region or the conserved core structures of cytochrome P4501B1.
Stoilov I.; Akarsu A.N.; Alozie I.; Child A.; Barsoum-Homsy M.; Turacli M.E.; Or M.; Lewis R.A.; Ozdemir N.; Brice G.; Aktan S.G.; Chevrette L.; Coca-Prados M.; Sarfarazi M.;
Am. J. Hum. Genet. 62:573-584(1998)
Cited for: VARIANT GLC3A TRP-365; VARIANTS CYS-57; GLU-61; TRP-365; LEU-379; LYS-387; HIS-390; VAL-432; LEU-437 AND TRP-469;
CYP1B1 mutations in French patients with early-onset primary open-angle glaucoma.
Melki R.; Colomb E.; Lefort N.; Brezin A.P.; Garchon H.-J.;
J. Med. Genet. 41:647-651(2004)
Cited for: VARIANTS GLC3A ASN-81; LYS-229; ARG-232; SER-269--PHE-271 DEL; LYS-387; HIS-390; TYR-423 AND GLY-443; VARIANTS GLY-48; SER-119; VAL-432 AND SER-453;
Mutation spectrum of the CYP1B1 gene in Indian primary congenital glaucoma patients.
Reddy A.B.M.; Kaur K.; Mandal A.K.; Panicker S.G.; Thomas R.; Hasnain S.E.; Balasubramanian D.; Chakrabarti S.;
Mol. Vis. 10:696-702(2004)
Cited for: VARIANTS GLC3A PRO-77; PRO-115; ARG-132; PRO-144; LEU-193; LYS-229; ARG-239; HIS-368; HIS-390; CYS-390; LEU-437 AND ASP-466; VARIANTS GLY-48; SER-119; VAL-432 AND SER-453;
Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. They are not in any way intended to be used as a substitute for professional medical advice, diagnostic, treatment or care.