Sequence information
Variant position: 620 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:
NNPCNYATCTGEEYLVKQGI
D LSPWGLWKNHVALACMIVIF
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 NNPC--NYATCT---GEEYLVKQGID LSPWGLW----------------------------------------------------------------KNHVALAC----------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------MIVIF
Rhesus macaque NNTC--NYATCT---GEEYLAKQGID LSPWGLW--------
Mouse NSTCVNSYAICT---GNEYLINQGIE LSPWGLW--------
Rat NSTCVNSYTICT---GNDYLINQGID LSPWGLW--------
Pig NNTC--SFAICT---GAEYLENQGIS LSAWGLW--------
Bovine NNTC--SYAICT---GEEFLTNQGID ISPWGLW--------
Slime mold PRGS-GNSSICQITRGDQFLDQLGMP QNNWFKWIDLLIVFA
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
Chain
1 – 655
Broad substrate specificity ATP-binding cassette transporter ABCG2
Topological domain
557 – 630
Extracellular
Domain
389 – 651
ABC transmembrane type-2
Disulfide bond
603 – 603
Interchain
Alternative sequence
612 – 655
Missing. In isoform 2.
Mutagenesis
603 – 603
C -> A. Strongly reduced binding to hemin but not to PPIX.
Mutagenesis
605 – 605
Y -> A. No effect on hemin binding.
Literature citations
Single nucleotide polymorphisms modify the transporter activity of ABCG2.
Morisaki K.; Robey R.W.; Oezvegy-Laczka C.; Honjo Y.; Polgar O.; Steadman K.; Sarkadi B.; Bates S.E.;
Cancer Chemother. Pharmacol. 56:161-172(2005)
Cited for: CHARACTERIZATION OF VARIANTS MET-12; LYS-141 AND ASN-620;
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.;
Cells 8:0-0(2019)
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;
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.