UniProtKB/Swiss-Prot O15245: Variant p.Met408Val

Solute carrier family 22 member 1
Gene: SLC22A1
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Variant information Variant position:

408 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 Methionine (M) to Valine (V) at position 408 (M408V, p.Met408Val). 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:

1 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:

Does not affect transporter activity; no changes in MPP(+) uptake when associated with F-14; no changes in MPP(+) uptake when associated with F-85; no changes in MPP(+) uptake when associated with L-189; no changes in MPP(+) uptake when associated with H-342; no changes in MPP(+) uptake when associated with M-420 del; no changes in MPP(+) uptake when associated with I-440; no changes in MPP(+) uptake when associated with I-461; no changes in MPP(+) uptake when associated with M-488; reduction of MPP uptake when associated with C-61; no MPP(+) uptake when associated with V-220; reduction of MPP(+) uptake when associated with L-341; no MPP(+) uptake when associated with S-401; no MPP(+) uptake when associated with R-465. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs628031 [ dbSNP | Ensembl ]

Sequence information Variant position:

408 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:

PGAFIALITIDRVGRIYPMA M SNLLAGAACLVMIFISPDLH 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                         PGAFIALITIDRVGRIYPMAMSNLLAGAACLVMIFISPDLH

Mouse                         PAAFIILVTIDRIGRIYPIAASNLVAGAACLLMIFIPHELH

Rat                           PAAFIILVTIDRIGRIYPIAASNLVTGAACLLMIFIPHELH

Pig                           PAAFVILLIIDRFGRLYLLAGSNLLAGAACFFMIFISHDLH

Bovine                        PAGFIILVTIDRFGRRYPLATSNLAAGLACFLMIFIPHDLP

Rabbit                        PAAFVILVTIDRVGRIYPMAASNLAAGVASVILIFVPQDLH

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	403 – 423	Helical
Alternative sequence	354 – 554	Missing. In isoform 4.

Literature citations
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; 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; 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.