UniProtKB/Swiss-Prot P16435: Variant p.Ala500Val

NADPH--cytochrome P450 reductase
Gene: POR
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Variant information Variant position:

500 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 Alanine (A) to Valine (V) at position 500 (A500V, p.Ala500Val). 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 small size and hydrophobic (A) to medium size and hydrophobic (V) 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 rs1057868 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

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

TKAGRINKGVATNWLRAKEP A GENGGRALVPMFVRKSQFRL 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                         TKAGRINKGVATNWLRAKEPA---------------GENGGRAL-----VPMFVRKSQFRL

Mouse                         AKSGRVNKGVATSWLRTKEPA---------------GENGR

Rat                           AKSGRVNKGVATSWLRAKEPA---------------GENGG

Pig                           TKSGRVNKGVATSWLRAKEPA---------------GENGR

Bovine                        TKTGRINKGVATSWLRAKEPA---------------GENGG

Rabbit                        TKAGRLNKGVATSWLRAKEPA---------------GENGG

Drosophila                    TPTGRINKGVATTYLKNKQPQ---------------GSEEV

Slime mold                    TGNQRAHNGVASTWLSHLKV----------------GDK--

Baker's yeast                 LPDAPPVVGVTTNLLRNIQLAQNNVNIAETNLPVHYDLNGP

Fission yeast                 TDKNHIFYGLTTNYLLAHCRHMHGEKIPHPNGLEY-TLEGP

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	2 – 677	NADPH--cytochrome P450 reductase
Topological domain	43 – 677	Cytoplasmic
Domain	279 – 521	FAD-binding FR-type

Literature citations
Quantification of cytochrome P450 reductase gene expression in human tissues.
Shephard E.A.; Palmer C.N.; Segall H.J.; Phillips I.R.;
Arch. Biochem. Biophys. 294:168-172(1992)
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; VARIANT VAL-500; Submission
NIEHS SNPs program;
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS LEU-225; ASN-252 AND VAL-500; 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]; VARIANTS LEU-225 AND VAL-500; Cytochrome P450 oxidoreductase gene mutations and Antley-Bixler syndrome with abnormal genitalia and/or impaired steroidogenesis: molecular and clinical studies in 10 patients.
Fukami M.; Horikawa R.; Nagai T.; Tanaka T.; Naiki Y.; Sato N.; Okuyama T.; Nakai H.; Soneda S.; Tachibana K.; Matsuo N.; Sato S.; Homma K.; Nishimura G.; Hasegawa T.; Ogata T.;
J. Clin. Endocrinol. Metab. 90:414-426(2005)
Cited for: VARIANTS ABS1 HIS-454; CYS-575 AND 608-LEU--TRP-617 DELINS ARG; VARIANT VAL-500;

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.