Sequence information
Variant position: 1142 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 1325 The length of the canonical sequence.
Location on the sequence:
QEPVLFTGTMRKNLDPFNEH
T DEELWNALQEVQLKETIEDL
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 QEPVLFTGTMRKNLDPFNEHT DEELWNALQEVQLKETIEDL
Mouse QEPVLFTGTMRKNLDPFNEHT DEELWRALEEVQLKEAIEDL
Rat QEPVLFTGTMRKNLDPFNEHS DEELWKALEEVQLKEAIEDL
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 – 1325
ATP-binding cassette sub-family C member 4
Domain
1041 – 1274
ABC transporter 2
Alternative sequence
860 – 1325
Missing. In isoform 3 and isoform 4.
Literature citations
6-mercaptopurine and 9-(2-phosphonyl-methoxyethyl) adenine (PMEA) transport altered by two missense mutations in the drug transporter gene ABCC4.
Janke D.; Mehralivand S.; Strand D.; Goedtel-Armbrust U.; Habermeier A.; Gradhand U.; Fischer C.; Toliat M.R.; Fritz P.; Zanger U.M.; Schwab M.; Fromm M.F.; Nuernberg P.; Wojnowski L.; Closs E.I.; Lang T.;
Hum. Mutat. 29:659-669(2008)
Cited for: VARIANTS CYS-556; ILE-776; ILE-820; PHE-854 AND VAL-866; CHARACTERIZATION OF VARIANTS TRP-187; ASN-304; GLU-487; CYS-556; LYS-757; ILE-776; ILE-820; PHE-854; VAL-866 AND MET-1142; CATALYTIC ACTIVITY; FUNCTION;
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.