Variant position: 401 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:
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 YSALVEIPGAFIALITIDRV GRIYPMAMSNLLAGAACLVMI
Mouse YSSLVEFPAAFIILVTIDRI GRIYPIAASNLVAGAACLLMI
Rat YSSLVEFPAAFIILVTIDRI GRIYPIAASNLVTGAACLLMI
Pig YSALVEFPAAFVILLIIDRF GRLYLLAGSNLLAGAACFFMI
Bovine YSALVEFPAGFIILVTIDRF GRRYPLATSNLAAGLACFLMI
Rabbit YSSLVEFPAAFVILVTIDRV GRIYPMAASNLAAGVASVILI
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
1 – 554 Solute carrier family 22 member 1
398 – 402 Cytoplasmic
354 – 554 Missing. In isoform 4.
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.;
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;
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;
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.