Variant position: 590 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 YFSIPRYGFTALQHNEFLGQ NFC------------PGLNATGNNPC--NYATCT---G
Rhesus macaque YFSIPRYGFTALQHNEFLGQ NFC------------PGLNAT
Mouse YFSIPRYGFTALQYNEFLGQ EFC------------PGFNVT
Rat YFSIPRYGFTALQHNEFLGQ EFC------------PGLNVT
Pig YFSIPRYGFSALQYNEFLGQ NFC------------PGLNVT
Bovine YLSIPRYGYAALQHNEFLGQ NFC------------PGLNVT
Slime mold WISPIKYAFEGLMSNEHHGL IYSCDDSETIPPRNTPNFELP
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
557 – 630 Extracellular
389 – 651 ABC transmembrane type-2
596 – 596 N-linked (GlcNAc...) asparagine
603 – 603 Interchain
550 – 611 IFSGLLVNLTTIASWLSWLQYFSIPRYGFTALQHNEFLGQNFCPGLNATGNNPCNYATCTGE -> VCWSISQPLHLGCHGFSTSAFHDMDLRLCSIMNFWDKTSAQDSMQQETILVTMQHVLAKNIW. In isoform 2.
583 – 583 H -> A. Strongly reduced binding to hemin but not to PPIX.
596 – 596 N -> Q. Loss of glycosylation.
603 – 603 C -> A. Strongly reduced binding to hemin but not to PPIX.
605 – 605 Y -> A. No effect on hemin binding.
Natural allelic variants of breast cancer resistance protein (BCRP) and their relationship to BCRP expression in human intestine.
Zamber C.P.; Lamba J.K.; Yasuda K.; Farnum J.; Thummel K.; Schuetz J.D.; Schuetz E.G.;
Cited for: VARIANTS MET-12; LYS-141; LEU-206 AND TYR-590;
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.