Variant position: 476 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 655 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 IHEYISGYYRVSSYFLGKLL SDLLPMRMLPSIIFTCIVYFM
Rhesus macaque IHEYISGYYRVSSYFFGKLL SDLLPMRMLPSIIFTCIVYFM
Mouse IHEYISGYYRVSSYFFGKVM SDLLPMRFLPSVIFTCVLYFM
Rat IHEYISGYYRVSSYFFGKLV SDLLPMRFLPSVIYTCILYFM
Pig IHEYISGYYRVSSYFFGKLL SDLLPMRMLPSIIFTCITYFL
Bovine IHEYISGYYRVSSYFFGKLL SDLLPMRMLPSIIFTCITYFL
Slime mold YIQKDGKYYKTFAFFLSLIF SEI-PIALLETVVFCVLVYWM
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 – 655 Broad substrate specificity ATP-binding cassette transporter ABCG2
450 – 477 Cytoplasmic
389 – 651 ABC transmembrane type-2
482 – 482 R -> D. Decreases ATPase activity.
482 – 482 R -> GNST. Increases ATPase activity.
482 – 482 R -> KIMY. No change in ATPase activity.
482 – 482 R -> TY. Decreases transport activity.
466 – 478
Cellular expression and function of naturally occurring variants of the human ABCG2 multidrug transporter.
Zambo B.; Mozner O.; Bartos Z.; Toeroek G.; Varady G.; Telbisz A.; Homolya L.; Orban T.I.; Sarkadi B.;
Cell. Mol. Life Sci. 0:0-0(2019)
Cited for: FUNCTION; CATALYTIC ACTIVITY; SUBCELLULAR LOCATION; CHARACTERIZATION OF VARIANT LYS-141; TRP-147; MET-153; LYS-360 DEL; CYS-373; MET-434 AND PRO-476; MUTAGENESIS OF MET-71; LYS-86 AND ARG-383;
Functional Characterization of Clinically-Relevant Rare Variants in ABCG2 Identified in a Gout and Hyperuricemia Cohort.
Toyoda Y.; Mancikova A.; Krylov V.; Morimoto K.; Pavelcova K.; Bohata J.; Pavelka K.; Pavlikova M.; Suzuki H.; Matsuo H.; Takada T.; Stiburkova B.;
Cited for: VARIANTS TRP-147; MET-153; LYS-360 DEL; CYS-373; ALA-421; MET-434; PRO-476; ARG-572 AND ASN-620; CHARACTERIZATION OF VARIANTS LYS-141; TRP-147; MET-153; LYS-360 DEL; CYS-373; ALA-421; MET-434; PRO-476; ARG-572 AND ASN-620; FUNCTION; CATALYTIC ACTIVITY; SUBCELLULAR LOCATION;
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.