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UniProtKB/Swiss-Prot O15245: Variant p.Pro341Leu

Solute carrier family 22 member 1
Gene: SLC22A1
Variant information

Variant position:  341
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 Proline (P) to Leucine (L) at position 341 (P341L, p.Pro341Leu).
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:  -3
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:  Affects transporter activity; reduction of the TEA uptake; reduction of the MPP uptake when associated with V-408; largely localized to the plasma membrane.
Any additional useful information about the variant.

Other resources:  
Links to websites of interest for the variant.



Sequence information

Variant position:  341
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:   SLEEDVTEKLSPSFADLFRT  P RLRKRTFILMYLWFTDSVLY
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                         SLEEDV-TEKLSPSFADLFRTPRLRKRTFILMYLWFTDSVLY

Mouse                         CLEEDA-SERRSPSFADLFRTPSLRKHTLILMYLWFSCAVL

Rat                           CLEEDA-SEKRSPSFADLFRTPNLRKHTVILMYLWFSCAVL

Pig                           SLEEEVVTERLSPSFLDLFRTQNLRKYTFILMYLWFTSSVL

Bovine                        SLEEDV-TEKLSPSFIDLFRTPNLRKYTFILMYLWFTSSVV

Rabbit                        SLDEDV-TEKLSPSLADLFRTPNLRKHTFILMFLWFTCSVL

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.

TypePositionsDescription
Chain 1 – 554 Solute carrier family 22 member 1
Topological domain 284 – 347 Cytoplasmic
Modified residue 333 – 333 Phosphoserine


Literature citations

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;

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.