UniProtKB/Swiss-Prot O15244: Variant p.Lys432Gln

Solute carrier family 22 member 2
Gene: SLC22A2
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Variant information Variant position:

432 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 Lysine (K) to Glutamine (Q) at position 432 (K432Q, p.Lys432Gln). 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 large size and basic (K) to medium size and polar (Q) 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:

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. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs8177517 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

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

MVAGAACLASVFIPGDLQWL K IIISCLGRMGITMAYEIVCL 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                         MVAGAACLASVFIPGDLQWLKIIISCLGRMGITMAYEIVCL

Mouse                         MVAGAACLASVFIPDDLQWLKITVACLGRMGITIAYEMVCL

Rat                           MVAGAACLASVFIPDDLQWLKITIACLGRMGITMAYEMVCL

Pig                           VVAGAACLASVFIPEDPHWLRITVLCLGRMGITMAYEMVCL

Rabbit                        MVAGAACLASVFVPDDLQGLRITVACLGRMGITMAYEMVCL

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 – 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.