Expasy logo

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q96S37: Variant p.Arg477His

Solute carrier family 22 member 12
Gene: SLC22A12
Feedback?
Variant information Variant position: help 477
Type of variant: help LP/P [Disclaimer]
Residue change: help From Arginine (R) to Histidine (H) at position 477 (R477H, p.Arg477His).
Physico-chemical properties: help Change from large size and basic (R) to medium size and polar (H)
BLOSUM score: help 0
Variant description: help In RHUC1.
Other resources: help


Sequence information Variant position: help 477
Protein sequence length: help 553
Location on the sequence: help SELFPTVLRMTAVGLGQMAA R GGAILGPLVRLLGVHGPWLP
Residue conservation: help 
Human                         SELFPTVLRMTAVGLGQMAARGGAILGPLVRLLGVHGPWLP

Mouse                         SELFPTVIRMTAVGLCQVAARGGAMLGPLVRLLGVYGSWMP

Rat                           SELFPTVIRMTAVGLGQVAARGGAMLGPLVRLLGVYGSWLP
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 1 – 553 Solute carrier family 22 member 12
Transmembrane 466 – 486 Helical



Literature citations
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;
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.