Sequence information
Variant position: 548 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:
AAYLHTTTTFTWMCSPFLVT
L ITLWVYVYVDPNNVLDAEKA
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 AAYLHTTTTFTWMCSPFLVTL ITLWVYVYVDPNNVLDAEKA
Mouse GAYLQAISTFIWICTPFLVTL ITLGVYVYVDESNVLDAEKA
Rat GAYLQAISTFIWVCTPFMVTL ITLGVYVCVDKNNVLDAEKA
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
Transmembrane
534 – 554
Helical; Name=10
Domain
311 – 594
ABC transmembrane type-1 1
Alternative sequence
511 – 1527
Missing. In isoform 3.
Alternative sequence
547 – 572
TLITLWVYVYVDPNNVLDAEKAFVSV -> RLGTGLGPCLQGSGCPGMARAHWTLP. In isoform 5.
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.