UniProtKB/Swiss-Prot Q16678: Variant p.Leu432Val

Cytochrome P450 1B1
Gene: CYP1B1
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Variant information Variant position:

432 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant:

LB/B The variants are classified into three categories: LP/P, LB/B and US.

LP/P: likely pathogenic or pathogenic.
LB/B: likely benign or benign.
US: uncertain significance

Residue change:

From Leucine (L) to Valine (V) at position 432 (L432V, p.Leu432Val). Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.
Physico-chemical properties:

Similar physico-chemical property. Both residues are medium size and hydrophobic. The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

1 The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:

Lowest score: -4 (low probability of substitution).
Highest score: 11 (high probability of substitution).

More information can be found on the following page
Polymorphism:

Various CYP1B1 alleles are known. The sequence shown is that of allele CYP1B1*1. Additional information on the polymorphism described.
Variant description:

In allele CYP1B1*3, allele CYP1B1*5, allele CYP1B1*6 and allele CYP1B1*7; 1.6-fold increase in 17beta-estradiol 4-hydroxylation activity but no change in 17beta-estradiol 2-hydroxylation activity; 2-fold reduction in testosterone 6beta-hydroxylation activity and 3-fold reduction in testosterone affinity; 6-fold and 4-fold increase in progesterone 6beta- and 16alpha-hydroxylation activity, respectively and 7-fold reduction in progesterone affinity. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs1056836 [ dbSNP | Ensembl ]

Sequence information Variant position:

432 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:

YHIPKDTVVFVNQWSVNHDP L KWPNPENFDPARFLDKDGLI 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                         YHIPKDTVVFVNQWSVNHDPLKWPNPENFDPARFLDKDGLI

Mouse                         YYIPKNTVVFVNQWSVNHDPAKWPNPEDFDPARFLDKDGFI

Rat                           YYIPKNTVVFVNQWSVNHDPAKWSNPEDFDPARFLDKDGFI

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
Chain	1 – 543	Cytochrome P450 1B1
Turn	431 – 433

Literature citations
Submission
NIEHS SNPs program;
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS GLY-48; SER-119; ASN-206; LEU-266; VAL-432 AND SER-453; Catalytic properties of polymorphic human cytochrome P450 1B1 variants.
Shimada T.; Watanabe J.; Kawajiri K.; Sutter T.R.; Guengerich F.P.; Gillam E.M.J.; Inoue K.;
Carcinogenesis 20:1607-1613(1999)
Cited for: FUNCTION; CATALYTIC ACTIVITY; BIOPHYSICOCHEMICAL PROPERTIES; CHARACTERIZATION OF VARIANTS SER-119 AND VAL-432; 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; Association of cytochrome P450 1B1 (CYP1B1) polymorphism with steroid receptor status in breast cancer.
Bailey L.R.; Roodi N.; Dupont W.D.; Parl F.F.;
Cancer Res. 58:5038-5041(1998)
Cited for: VARIANTS VAL-432 AND SER-453; 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; Association of CYP1B1 genetic polymorphism with incidence to breast and lung cancer.
Watanabe J.; Shimada T.; Gillam E.M.; Ikuta T.; Suemasu K.; Higashi Y.; Gotoh O.; Kawajiri K.;
Pharmacogenetics 10:25-33(2000)
Cited for: VARIANTS SER-119 AND VAL-432; ASSOCIATION WITH BREAST OR LUNG CANCER; Novel cytochrome P4501B1 (CYP1B1) gene mutations in Japanese patients with primary congenital glaucoma.
Mashima Y.; Suzuki Y.; Sergeev Y.; Ohtake Y.; Tanino T.; Kimura I.; Miyata H.; Aihara M.; Tanihara H.; Inatani M.; Azuma N.; Iwata T.; Araie M.;
Invest. Ophthalmol. Vis. Sci. 42:2211-2216(2001)
Cited for: VARIANTS GLC3A VAL-192; ILE-198; LEU-320; PHE-330; MET-364; GLN-444 AND GLY-499; VARIANTS GLY-48; SER-119 AND VAL-432; Digenic inheritance of early-onset glaucoma: CYP1B1, a potential modifier gene.
Vincent A.L.; Billingsley G.; Buys Y.; Levin A.V.; Priston M.; Trope G.; Williams-Lyn D.; Heon E.;
Am. J. Hum. Genet. 70:448-460(2002)
Cited for: VARIANT GLC3A PHE-345; VARIANT GLC1A HIS-368; VARIANT VAL-432; Identification of novel mutations causing familial primary congenital glaucoma in Indian pedigrees.
Panicker S.G.; Reddy A.B.M.; Mandal A.K.; Ahmed N.; Nagarajaram H.A.; Hasnain S.E.; Balasubramanian D.;
Invest. Ophthalmol. Vis. Sci. 43:1358-1366(2002)
Cited for: VARIANTS GLC3A GLU-61; LEU-193; LYS-229 AND HIS-368; VARIANTS GLY-48; SER-184 AND VAL-432; Molecular genetics of primary congenital glaucoma in Brazil.
Stoilov I.R.; Costa V.P.; Vasconcellos J.P.C.; Melo M.B.; Betinjane A.J.; Carani J.C.E.; Oltrogge E.V.; Sarfarazi M.;
Invest. Ophthalmol. Vis. Sci. 43:1820-1827(2002)
Cited for: VARIANTS GLC3A HIS-368; LYS-387; LEU-437 AND GLY-443; VARIANTS GLY-48; SER-119; VAL-432 AND SER-453; Functional analysis of six different polymorphic CYP1B1 enzyme variants found in an Ethiopian population.
Aklillu E.; Oscarson M.; Hidestrand M.; Leidvik B.; Otter C.; Ingelman-Sundberg M.;
Mol. Pharmacol. 61:586-594(2002)
Cited for: VARIANTS GLY-48; SER-119; VAL-432; GLY-443 AND SER-453; Novel cytochrome P450 1B1 (CYP1B1) mutations in patients with primary congenital glaucoma in France.
Colomb E.; Kaplan J.; Garchon H.-J.;
Hum. Mutat. 22:496-496(2003)
Cited for: VARIANTS GLC3A LYS-229; ARG-232; LYS-387; SER-390; SER-399 AND TYR-423; VARIANTS GLY-48; SER-119; VAL-432 AND SER-453; CYP1B1 gene analysis in primary congenital glaucoma in Indonesian and European patients.
Sitorus R.; Ardjo S.M.; Lorenz B.; Preising M.;
J. Med. Genet. 40:E9-E9(2003)
Cited for: VARIANTS GLC3A ILE-215; 355-ARG--ALA-358 DEL AND MET-364; VARIANTS GLY-48; SER-119; VAL-432 AND SER-453; 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; 269-SER--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; Primary role of CYP1B1 in Indian juvenile-onset POAG patients.
Acharya M.; Mookherjee S.; Bhattacharjee A.; Bandyopadhyay A.K.; Daulat Thakur S.K.; Bhaduri G.; Sen A.; Ray K.;
Mol. Vis. 12:399-404(2006)
Cited for: VARIANTS GLC3A CYS-57; LYS-229; HIS-368; LEU-515; THR-523 AND GLY-530; VARIANTS GLY-48; SER-119; VAL-432; SER-453 AND ALA-518;

Disclaimer: 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.