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UniProtKB/Swiss-Prot Q96S37: Variant p.Glu298Asp

Solute carrier family 22 member 12
Gene: SLC22A12
Variant information

Variant position:  298
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  LP/P [Disclaimer]
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 Glutamate (E) to Aspartate (D) at position 298 (E298D, p.Glu298Asp).
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 acidic.
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  2
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:  In RHUC1; strongly reduced urate transport.
Any additional useful information about the variant.

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



Sequence information

Variant position:  298
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  553
The length of the canonical sequence.

Location on the sequence:   WLAESARWLLTTGRLDWGLQ  E LWRVAAINGKGAVQDTLTPE
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                         WLAESARWLLTTGRLDWGLQELWRVAAINGKGAVQDTLTPE

Mouse                         WLPESARWLITVGKLDQGLQELQRVAAVNRRKAEGDTLTME

Rat                           WLPESARWLITVGRLDQSLRELQRVAAVNRRKAEADTLTVE

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 – 553 Solute carrier family 22 member 12


Literature citations

Molecular identification of a renal urate anion exchanger that regulates blood urate levels.
Enomoto A.; Kimura H.; Chairoungdua A.; Shigeta Y.; Jutabha P.; Cha S.H.; Hosoyamada M.; Takeda M.; Sekine T.; Igarashi T.; Matsuo H.; Kikuchi Y.; Oda T.; Ichida K.; Hosoya T.; Shimokata K.; Niwa T.; Kanai Y.; Endou H.;
Nature 417:447-452(2002)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); FUNCTION; TISSUE SPECIFICITY; SUBCELLULAR LOCATION; VARIANTS RHUC1 MET-217 AND ASP-298; CHARACTERIZATION OF VARIANTS RHUC1 MET-217 AND ASP-298;

Molecular analysis of the SLC22A12 (URAT1) gene in patients with primary gout.
Vazquez-Mellado J.; Jimenez-Vaca A.L.; Cuevas-Covarrubias S.; Alvarado-Romano V.; Pozo-Molina G.; Burgos-Vargas R.;
Rheumatology 46:215-219(2007)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 278-318; VARIANT RHUC1 ASP-298; VARIANTS GLY-284; CYS-290; GLU-297 AND SER-305;

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.