Variant position: 477 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 SELFPTVLRMTAVGLGQMAA RGGAILGPLVRLLGVHGPWLP
Mouse SELFPTVIRMTAVGLCQVAA RGGAMLGPLVRLLGVYGSWMP
Rat SELFPTVIRMTAVGLGQVAA RGGAMLGPLVRLLGVYGSWLP
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
466 – 486 Helical
A high prevalence of renal hypouricemia caused by inactive SLC22A12 in Japanese.
Iwai N.; Mino Y.; Hosoyamada M.; Tago N.; Kokubo Y.; Endou H.;
Kidney Int. 66:935-944(2004)
Cited for: VARIANTS RHUC1 HIS-90; 313-ASP--PRO-333 DEL AND HIS-477; VARIANTS VAL-226 AND LEU-312; CHARACTERIZATION OF VARIANT RHUC1 313-ASP--PRO-333 DEL;
Mutational analysis of idiopathic renal hypouricemia in Korea.
Cheong H.I.; Kang J.H.; Lee J.H.; Ha I.S.; Kim S.; Komoda F.; Sekine T.; Igarashi T.; Choi Y.;
Pediatr. Nephrol. 20:886-890(2005)
Cited for: VARIANTS RHUC1 HIS-90 AND HIS-477;
Hereditary renal hypouricemia type 1 and autosomal dominant polycystic kidney disease.
Stiburkova B.; Stekrova J.; Nakamura M.; Ichida K.;
Am. J. Med. Sci. 350:268-271(2015)
Cited for: VARIANTS RHUC1 ARG-366 AND HIS-477; CHARACTERIZATION OF VARIANT RHUC1 ARG-366;
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.