Variant position: 469 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 DGLINKDLTSRVMIFSVGKR RCIGEELSKMQLFLFISILAH
Mouse DGFINKALASSVMIFSVGKR RCIGEELSKMLLFLFISILAH
Rat DGFINKALASSVMIFSVGKR RCIGEELSKTLLFLFISILAH
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
470 – 470 Iron (heme axial ligand)
Mutations in CYP1B1, the gene for cytochrome P4501B1, are the predominant cause of primary congenital glaucoma in Saudi Arabia.
Bejjani B.A.; Lewis R.A.; Tomey K.F.; Anderson K.L.; Dueker D.K.; Jabak M.; Astle W.F.; Otterud B.; Leppert M.; Lupski J.R.;
Am. J. Hum. Genet. 62:325-333(1998)
Cited for: VARIANTS GLC3A GLU-61; ASN-374 AND TRP-469;
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;
Multiple CYP1B1 mutations and incomplete penetrance in an inbred population segregating primary congenital glaucoma suggest frequent de novo events and a dominant modifier locus.
Bejjani B.A.; Stockton D.W.; Lewis R.A.; Tomey K.F.; Dueker D.K.; Jabak M.; Astle W.F.; Lupski J.R.;
Hum. Mol. Genet. 9:367-374(2000)
Cited for: VARIANTS GLC3A GLU-61; PRO-77; 269-SER--PHE-271 DEL; HIS-368; ASN-374; SER-390 AND TRP-469; VARIANTS GLY-48; SER-119; VAL-432 AND SER-453;
Primary congenital glaucoma and Rieger's anomaly: extended haplotypes reveal founder effects for eight distinct CYP1B1 mutations.
Chavarria-Soley G.; Michels-Rautenstrauss K.; Pasutto F.; Flikier D.; Flikier P.; Cirak S.; Bejjani B.; Winters D.L.; Lewis R.A.; Mardin C.; Reis A.; Rautenstrauss B.;
Mol. Vis. 12:523-531(2006)
Cited for: VARIANTS GLC3A GLU-61; ASN-81; LYS-229; LEU-343 DEL; HIS-368; LYS-387 AND TRP-469;
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