UniProtKB/Swiss-Prot Q16678: Variant p.Pro379Leu

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

379 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 Proline (P) to Leucine (L) at position 379 (P379L, p.Pro379Leu). 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:

-3 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*19. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs56305281 [ dbSNP | Ensembl ]

Sequence information Variant position:

379 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:

ELDQVVGRDRLPCMGDQPNL P YVLAFLYEAMRFSSFVPVTI 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                         ELDQVVGRDRLPCMGDQPNLPYVLAFLYEAMRFSSFVPVTI

Mouse                         ELDQVVGRDRLPCMSDQPNLPYVMAFLYESMRFSSFLPVTI

Rat                           ELDQVVGRDRLPCMSDQPNLPYVMAFLYESMRFTSFLPVTL

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
Site	395 – 395	Major determinant of CYP1B1 17beta-estradiol hydroxylation regiospecificity
Mutagenesis	395 – 395	V -> L. Invertes the 4OH E2:2OH E2 hydroxylation preference from 5.1 to 0.45.
Helix	379 – 392

Literature citations
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;

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.