UniProtKB/Swiss-Prot Q6UW02: Variant p.Leu346Phe

Cytochrome P450 20A1
Gene: CYP20A1
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Variant information Variant position:

346 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 Phenylalanine (F) at position 346 (L346F, p.Leu346Phe). 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:

Change from medium size and hydrophobic (L) to large size and aromatic (F) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

0 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
Other resources:

Links to websites of interest for the variant.

Variant rs1048013 [ dbSNP | Ensembl ]

Sequence information Variant position:

346 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length:

462 The length of the canonical sequence.
Location on the sequence:

CQHVLCETVRTAKLTPVSAQ L QDIEGKIDRFIIPRETLVLY 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                         CQHVLCETVRTAKLTPVSAQLQDIEGKIDRFIIPRETLVLY

Mouse                         CQQVLFETVRTAKLTPVSARLQDIEGKVGPFVIPKETLVLY

Rat                           CQQVLCETVRTAKLTPVSAQLQDIEGKVGPFIIPKETLVLY

Bovine                        CRQVLCETVRTAKLTPVSARLQDIEGKIDKFIIPRETLVLY

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 – 462	Cytochrome P450 20A1

Literature citations
A novel gene expressed in human pheochromocytoma.
Peng Y.; Li Y.; Tu Y.; Xu S.; Han Z.; Fu G.; Chen Z.;
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2); VARIANTS LEU-97 AND PHE-346; The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
The MGC Project Team;
Genome Res. 14:2121-2127(2004)
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1); VARIANTS LEU-97 AND PHE-346; An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
Bian Y.; Song C.; Cheng K.; Dong M.; Wang F.; Huang J.; Sun D.; Wang L.; Ye M.; Zou H.;
J. Proteomics 96:253-262(2014)
Cited for: VARIANT [LARGE SCALE ANALYSIS] PHE-346; IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS];

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.