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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot O15244: Variant p.Lys432Gln

Solute carrier family 22 member 2
Gene: SLC22A2
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Variant information Variant position: help 432
Type of variant: help LB/B
Residue change: help From Lysine (K) to Glutamine (Q) at position 432 (K432Q, p.Lys432Gln).
Physico-chemical properties: help Change from large size and basic (K) to medium size and polar (Q)
BLOSUM score: help 1
Variant description: help Lower Km value for MPP(+) and reduced Ki value for TBA inhibition of MPP; no change in transport efficiency (Vmax/Km) and clearance of cyclo(his-pro) and salsolinol.
Other resources: help


Sequence information Variant position: help 432
Protein sequence length: help 555
Location on the sequence: help MVAGAACLASVFIPGDLQWL K IIISCLGRMGITMAYEIVCL
Residue conservation: help 
Human                         MVAGAACLASVFIPGDLQWLKIIISCLGRMGITMAYEIVCL

Mouse                         MVAGAACLASVFIPDDLQWLKITVACLGRMGITIAYEMVCL

Rat                           MVAGAACLASVFIPDDLQWLKITIACLGRMGITMAYEMVCL

Pig                           VVAGAACLASVFIPEDPHWLRITVLCLGRMGITMAYEMVCL

Rabbit                        MVAGAACLASVFVPDDLQGLRITVACLGRMGITMAYEMVCL
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 1 – 555 Solute carrier family 22 member 2
Transmembrane 415 – 435 Helical
Site 451 – 451 Involved in recognition of organic cations and participates in structural changes that occur during translocation of organic cations
Alternative sequence 243 – 555 Missing. In isoform 3.
Alternative sequence 427 – 483 DLQWLKIIISCLGRMGITMAYEIVCLVNAELYPTFIRNLGVHICSSMCDIGGIITPF -> GKFQVKLESYLQDPGERECHGPLIGKPCNLSSKSIWKDKLEGSIWDPSEQIHMASLL. In isoform 2.



Literature citations
Polymorphisms in a human kidney xenobiotic transporter, OCT2, exhibit altered function.
Leabman M.K.; Huang C.C.; Kawamoto M.; Johns S.J.; Stryke D.; Ferrin T.E.; DeYoung J.; Taylor T.; Clark A.G.; Herskowitz I.; Giacomini K.M.;
Pharmacogenetics 12:395-405(2002)
Cited for: VARIANT SER-54; CHARACTERIZATION OF VARIANTS ILE-165; ALA-270; CYS-400 AND GLN-432; Identification of the endogenous key substrates of the human organic cation transporter OCT2 and their implication in function of dopaminergic neurons.
Taubert D.; Grimberg G.; Stenzel W.; Schoemig E.;
PLoS ONE 2:e385-e385(2007)
Cited for: VARIANTS ILE-165; ALA-270; CYS-400 AND GLN-432; CHARACTERIZATION OF VARIANTS ILE-165; ALA-270; CYS-400 AND GLN-432; FUNCTION; TRANSPORTER ACTIVITY; BIOPHYSICOCHEMICAL PROPERTIES; TISSUE SPECIFICITY;
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.