Variant position: 217 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:
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 PVYCLFRFLLAFAVAGVMMN TGTLLMEWTAARARPLVMTLN
Mouse PLYCLFRFLLASAVAGVMMN TASLLMEWTSAQGSPLVMTLN
Rat PLYCLFRFLVASAVAGVMMN TASLLMEWTSAQAGPLMMTLN
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 – 553 Solute carrier family 22 member 12
1 – 221 Missing. In isoform 3.
170 – 277 Missing. In isoform 2.
187 – 221 GTAAAFAPAFPVYCLFRFLLAFAVAGVMMNTGTLL -> V. In isoform 4.
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.;
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;
Clinical and molecular analysis of patients with renal hypouricemia in Japan-influence of URAT1 gene on urinary urate excretion.
Ichida K.; Hosoyamada M.; Hisatome I.; Enomoto A.; Hikita M.; Endou H.; Hosoya T.;
J. Am. Soc. Nephrol. 15:164-173(2004)
Cited for: VARIANTS RHUC1 HIS-90; MET-138; SER-164; MET-217; LEU-382 AND THR-430; CHARACTERIZATION OF VARIANTS RHUC1 HIS-90; MET-138; SER-164; MET-217; LEU-382 AND THR-430;
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.