UniProtKB/Swiss-Prot Q8NFT2: Variant p.Phe17Cys

Metalloreductase STEAP2
Gene: STEAP2
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Variant information Variant position:

17 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 Phenylalanine (F) to Cysteine (C) at position 17 (F17C, p.Phe17Cys). 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 large size and aromatic (F) to medium size and polar (C) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

-2 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 rs194520 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

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

MESISMMGSPKSLSET F LPNGINGIKDARKVTVGVIG 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                         MESISMMGSPKSLSETFLPNGINGIKDARKVTVGVIG

Mouse                         MESISMMGSPKSL-ETFLPNGINGIKDARQVTVGVIG

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 – 490	Metalloreductase STEAP2

Literature citations
Molecular cloning and characterization of STAMP1, a highly prostate specific six-trans-membrane protein that is overexpressed in prostate cancer.
Korkmaz K.S.; Elbi C.C.; Korkmaz C.G.; Loda M.; Hager G.L.; Saatcioglu F.;
J. Biol. Chem. 277:36689-36696(2002)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 3); TISSUE SPECIFICITY; VARIANTS CYS-17 AND ILE-475; Cloning and characterization of a novel six-transmembrane protein STEAP2, expressed in normal and malignant prostate.
Porkka K.P.; Helenius M.A.; Visakorpi T.;
Lab. Invest. 82:1573-1582(2002)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); TISSUE SPECIFICITY; SUBCELLULAR LOCATION; VARIANTS CYS-17; GLN-456 AND ILE-475; Bioinformatics identification and clinical validation of tumor antigens by analysis of EST and tissue microarray data.
Zhang Z.; Eberhard D.A.; Polakis P.; Grimaldi C.; Frantz G.D.; Hillan K.J.; Wood W.I.;
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2); VARIANT CYS-17; The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment.
Clark H.F.; Gurney A.L.; Abaya E.; Baker K.; Baldwin D.T.; Brush J.; Chen J.; Chow B.; Chui C.; Crowley C.; Currell B.; Deuel B.; Dowd P.; Eaton D.; Foster J.S.; Grimaldi C.; Gu Q.; Hass P.E.; Heldens S.; Huang A.; Kim H.S.; Klimowski L.; Jin Y.; Johnson S.; Lee J.; Lewis L.; Liao D.; Mark M.R.; Robbie E.; Sanchez C.; Schoenfeld J.; Seshagiri S.; Simmons L.; Singh J.; Smith V.; Stinson J.; Vagts A.; Vandlen R.L.; Watanabe C.; Wieand D.; Woods K.; Xie M.-H.; Yansura D.G.; Yi S.; Yu G.; Yuan J.; Zhang M.; Zhang Z.; Goddard A.D.; Wood W.I.; Godowski P.J.; Gray A.M.;
Genome Res. 13:2265-2270(2003)
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2); VARIANT CYS-17; A quantitative atlas of mitotic phosphorylation.
Dephoure N.; Zhou C.; Villen J.; Beausoleil S.A.; Bakalarski C.E.; Elledge S.J.; Gygi S.P.;
Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008)
Cited for: VARIANT [LARGE SCALE ANALYSIS] CYS-17; 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.