Sequence information
Variant position: 1297 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 1527 The length of the canonical sequence.
Location on the sequence:
SRPPEGWPPRGEVEFRNYSV
R YRPGLDLVLRDLSLHVHGGE
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 SRPPEGWPPRGEVEFRNYSVR YRPGLDLVLRDLSLHVHGGE
Mouse NRAPEGWPTRGMVEFRNYSVR YRPGLELVLKNVTVHVQGGE
Rat NRAPEGWPRSGVVEFRNYSVR YRPGLELVLKNLTLHVQGGE
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 – 1527
ATP-binding cassette sub-family C member 3
Topological domain
1244 – 1527
Cytoplasmic
Domain
1291 – 1523
ABC transporter 2
Alternative sequence
511 – 1527
Missing. In isoform 3.
Alternative sequence
573 – 1527
Missing. In isoform 5.
Alternative sequence
1194 – 1527
WLSIGVEFVGNCVVLFAALFAVIGRSSLNPGLVGLSVSYSLQVTFALNWMIRMMSDLESNIVAVERVKEYSKTETEAPWVVEGSRPPEGWPPRGEVEFRNYSVRYRPGLDLVLRDLSLHVHGGEKVGIVGRTGAGKSSMTLCLFRILEAAKGEIRIDGLNVADIGLHDLRSQLTIIPQDPILFSGTLRMNLDPFGSYSEEDIWWALELSHLHTFVSSQPAGLDFQCSEGGENLSVGQRQLVCLARALLRKSRILVLDEATAAIDLETDNLIQATIRTQFDTCTVLTIAHRLNTIMDYTRVLVLDKGVVAEFDSPANLIAARGIFYGMARDAGLA -> SEAASLAPCSSRNSQQALWCSGSLSLLSPKQKTGPALPLPHFLLI. In isoform 2.
Literature citations
Identification and functional characterization of the natural variant MRP3-Arg1297His of human multidrug resistance protein 3 (MRP3/ABCC3).
Lee Y.M.; Cui Y.; Koenig J.; Risch A.; Jaeger B.; Drings P.; Bartsch H.; Keppler D.; Nies A.T.;
Pharmacogenetics 14:213-223(2004)
Cited for: FUNCTION; CATALYTIC ACTIVITY; VARIANTS GLN-548 AND HIS-1297; CHARACTERIZATION OF VARIANT HIS-1297; SUBCELLULAR LOCATION; BIOPHYSICOCHEMICAL PROPERTIES;
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.