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
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;
Cytochrome P4501B1 mutations cause only part of primary congenital glaucoma in Ecuador.
Curry S.M.; Daou A.G.; Hermanns P.; Molinari A.; Lewis R.A.; Bejjani B.A.;
Ophthalmic Genet. 25:3-9(2004)
Cited for: VARIANT GLC3A CYS-390;
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