UniProtKB/Swiss-Prot Q9Y226: Variant p.Arg377Cys

Solute carrier family 22 member 13
Gene: SLC22A13
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Variant information Variant position:

377 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 Arginine (R) to Cysteine (C) at position 377 (R377C, p.Arg377Cys). 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 (R) to medium size and polar (C) 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:

May be associated with a reduced risk for gout; variant carriers have lower serum urate levels and increased renal urate excretion; results in strongly reduced urate transport; no change in SLC22A13/OAT10 protein levels; no change in cellular localization. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs117371763 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

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

DFGLDVYLTQLIFGAVEVPA R CSSIFMMQRFGRKWSQLGTL 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                         DFGLDVYLTQLIFGAVEVPARCSSIFMMQRFGRKWSQLGTL

Mouse                         DFGLDIYVTQLIFGAVEMPGRFLSVLMMEKLGRKWSQLCTL

Rat                           DFGLDIYLTQVIFGVVEVPARLSSIPMMEKLGRKWSQLCTL

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 – 551	Solute carrier family 22 member 13
Topological domain	376 – 397	Cytoplasmic

Literature citations
Dysfunctional missense variant of OAT10/SLC22A13 decreases gout risk and serum uric acid levels.
Higashino T.; Morimoto K.; Nakaoka H.; Toyoda Y.; Kawamura Y.; Shimizu S.; Nakamura T.; Hosomichi K.; Nakayama A.; Ooyama K.; Ooyama H.; Shimizu T.; Ueno M.; Ito T.; Tamura T.; Naito M.; Nakashima H.; Kawaguchi M.; Takao M.; Kawai Y.; Osada N.; Ichida K.; Yamamoto K.; Suzuki H.; Shinomiya N.; Inoue I.; Takada T.; Matsuo H.;
Ann. Rheum. Dis. 79:164-166(2020)
Cited for: VARIANT CYS-377; FUNCTION; TRANSPORTER ACTIVITY; TISSUE SPECIFICITY; SUBCELLULAR LOCATION; CHARACTERIZATION OF VARIANT CYS-377; OAT10/SLC22A13 Acts as a Renal Urate Re-Absorber: Clinico-Genetic and Functional Analyses With Pharmacological Impacts.
Toyoda Y.; Kawamura Y.; Nakayama A.; Morimoto K.; Shimizu S.; Tanahashi Y.; Tamura T.; Kondo T.; Kato Y.; Ichida K.; Suzuki H.; Shinomiya N.; Kobayashi Y.; Takada T.; Matsuo H.;
Front. Pharmacol. 13:842717-842717(2022)
Cited for: VARIANT CYS-377; FUNCTION; TRANSPORTER ACTIVITY; BIOPHYSICOCHEMICAL PROPERTIES; SUBCELLULAR LOCATION; TISSUE SPECIFICITY; CHARACTERIZATION OF VARIANT CYS-377; GLYCOSYLATION;

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.