UniProtKB/Swiss-Prot O15245: Variant p.Leu160Phe

Solute carrier family 22 member 1
Gene: SLC22A1
Feedback?

Variant information Variant position:

160 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 160 (L160F, p.Leu160Phe). 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
Variant description:

No changes in both MPP(+) and TEA uptake; abolishes MPP(+) uptake when associated with S-401; largely localized to the plasma membrane. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs683369 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

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

LVCADSWKLDLFQSCLNAGF L FGSLGVGYFADRFGRKLCLL 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                         LVCADSWKLDLFQSCLNAGFLFGSLGVGYFADRFGRKLCLL

Mouse                         LVCGDAWKVDLFQSCVNLGFFLGSLVVGYIADRFGRKLCLL

Rat                           LVCGDAWKVDLFQSCVNLGFFLGSLVVGYIADRFGRKLCLL

Pig                           LVCEAAWKVDLFQSCVNVGFFVGSMGIGYIADRLVGSSASW

Bovine                        LVCDDSWKVDLFQSCVNLGFFLGSLGVGYIADRFGRKVCLL

Rabbit                        LVCADAWKVDLFQSCVNLGFFLGSLGVGYIADRFGRKLCLL

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 – 554	Solute carrier family 22 member 1
Transmembrane	150 – 170	Helical
Helix	147 – 172

Literature citations
Cloning and characterization of two human polyspecific organic cation transporters.
Gorboulev V.; Ulzheimer J.C.; Akhoundova A.; Ulzheimer-Teuber I.; Karbach U.; Quester S.; Baumann C.; Lang F.; Busch A.E.; Koepsell H.;
DNA Cell Biol. 16:871-881(1997)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); FUNCTION; TRANSPORTER ACTIVITY; TISSUE SPECIFICITY; MISCELLANEOUS; VARIANT PHE-160; Complete sequencing and characterization of 21,243 full-length human cDNAs.
Ota T.; Suzuki Y.; Nishikawa T.; Otsuki T.; Sugiyama T.; Irie R.; Wakamatsu A.; Hayashi K.; Sato H.; Nagai K.; Kimura K.; Makita H.; Sekine M.; Obayashi M.; Nishi T.; Shibahara T.; Tanaka T.; Ishii S.; Yamamoto J.; Saito K.; Kawai Y.; Isono Y.; Nakamura Y.; Nagahari K.; Murakami K.; Yasuda T.; Iwayanagi T.; Wagatsuma M.; Shiratori A.; Sudo H.; Hosoiri T.; Kaku Y.; Kodaira H.; Kondo H.; Sugawara M.; Takahashi M.; Kanda K.; Yokoi T.; Furuya T.; Kikkawa E.; Omura Y.; Abe K.; Kamihara K.; Katsuta N.; Sato K.; Tanikawa M.; Yamazaki M.; Ninomiya K.; Ishibashi T.; Yamashita H.; Murakawa K.; Fujimori K.; Tanai H.; Kimata M.; Watanabe M.; Hiraoka S.; Chiba Y.; Ishida S.; Ono Y.; Takiguchi S.; Watanabe S.; Yosida M.; Hotuta T.; Kusano J.; Kanehori K.; Takahashi-Fujii A.; Hara H.; Tanase T.-O.; Nomura Y.; Togiya S.; Komai F.; Hara R.; Takeuchi K.; Arita M.; Imose N.; Musashino K.; Yuuki H.; Oshima A.; Sasaki N.; Aotsuka S.; Yoshikawa Y.; Matsunawa H.; Ichihara T.; Shiohata N.; Sano S.; Moriya S.; Momiyama H.; Satoh N.; Takami S.; Terashima Y.; Suzuki O.; Nakagawa S.; Senoh A.; Mizoguchi H.; Goto Y.; Shimizu F.; Wakebe H.; Hishigaki H.; Watanabe T.; Sugiyama A.; Takemoto M.; Kawakami B.; Yamazaki M.; Watanabe K.; Kumagai A.; Itakura S.; Fukuzumi Y.; Fujimori Y.; Komiyama M.; Tashiro H.; Tanigami A.; Fujiwara T.; Ono T.; Yamada K.; Fujii Y.; Ozaki K.; Hirao M.; Ohmori Y.; Kawabata A.; Hikiji T.; Kobatake N.; Inagaki H.; Ikema Y.; Okamoto S.; Okitani R.; Kawakami T.; Noguchi S.; Itoh T.; Shigeta K.; Senba T.; Matsumura K.; Nakajima Y.; Mizuno T.; Morinaga M.; Sasaki M.; Togashi T.; Oyama M.; Hata H.; Watanabe M.; Komatsu T.; Mizushima-Sugano J.; Satoh T.; Shirai Y.; Takahashi Y.; Nakagawa K.; Okumura K.; Nagase T.; Nomura N.; Kikuchi H.; Masuho Y.; Yamashita R.; Nakai K.; Yada T.; Nakamura Y.; Ohara O.; Isogai T.; Sugano S.;
Nat. Genet. 36:40-45(2004)
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1); VARIANTS PHE-160; VAL-408; MET-420 DEL AND ARG-465; 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); VARIANT PHE-160; Identification of genetic variations of the human organic cation transporter hOCT1 and their functional consequences.
Kerb R.; Brinkmann U.; Chatskaia N.; Gorbunov D.; Gorboulev V.; Mornhinweg E.; Keil A.; Eichelbaum M.; Koepsell H.;
Pharmacogenetics 12:591-595(2002)
Cited for: VARIANTS CYS-61; ARG-88; PHE-160; SER-401 AND MET-420 DEL; CHARACTERIZATION OF VARIANTS CYS-61; ARG-88; PHE-160; SER-401 AND MET-420 DEL; FUNCTION; TRANSPORTER ACTIVITY; MISCELLANEOUS; Evolutionary conservation predicts function of variants of the human organic cation transporter, OCT1.
Shu Y.; Leabman M.K.; Feng B.; Mangravite L.M.; Huang C.C.; Stryke D.; Kawamoto M.; Johns S.J.; DeYoung J.; Carlson E.; Ferrin T.E.; Herskowitz I.; Giacomini K.M.;
Proc. Natl. Acad. Sci. U.S.A. 100:5902-5907(2003)
Cited for: VARIANTS PHE-14; CYS-61; PHE-85; PHE-160; LEU-189; VAL-220; LEU-341; HIS-342; SER-401; VAL-408; MET-420 DEL; ILE-440; ILE-461; ARG-465 AND MET-488; CHARACTERIZATION OF VARIANTS PHE-14; CYS-61; PHE-85; PHE-160; LEU-189; VAL-220; LEU-341; HIS-342; SER-401; VAL-408; MET-420 DEL; ILE-440; ILE-461; ARG-465 AND MET-488; MUTAGENESIS OF GLY-465; FUNCTION; SUBCELLULAR LOCATION; MISCELLANEOUS; Novel single nucleotide polymorphisms of organic cation transporter 1 (SLC22A1) affecting transport functions.
Sakata T.; Anzai N.; Shin H.J.; Noshiro R.; Hirata T.; Yokoyama H.; Kanai Y.; Endou H.;
Biochem. Biophys. Res. Commun. 313:789-793(2004)
Cited for: VARIANTS PHE-160; LEU-283; GLY-287 AND LEU-341; Seven novel single nucleotide polymorphisms in the human SLC22A1 gene encoding organic cation transporter 1 (OCT1).
Itoda M.; Saito Y.; Maekawa K.; Hichiya H.; Komamura K.; Kamakura S.; Kitakaze M.; Tomoike H.; Ueno K.; Ozawa S.; Sawada J.;
Drug Metab. Pharmacokinet. 19:308-312(2004)
Cited for: VARIANTS LEU-41; PHE-160; LEU-341 AND VAL-408;

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.