Sequence information
Variant position: 757 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:
YWANKQSMLNVTVNGGGNVT
E KLDLNWYLGIYSGLTVATVL
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 YWANKQSMLNVTVNGGGNVTE KLDLNWYLGIYSGLTVATVL
Mouse HWANKQGALNNTRNANGNITE TLDLSWYLGIYAGLTAVTVL
Rat HWANRQGALNDTKNANGNVTG TLDLSWYLGIYTGLTAVTVL
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
714 – 1005
ABC transmembrane type-1 2
Glycosylation
746 – 746
N-linked (GlcNAc...) asparagine
Glycosylation
754 – 754
N-linked (GlcNAc...) asparagine
Mutagenesis
746 – 746
N -> Q. Does not affect plasma membrane localization; 1.5 fold increase in PEG2 transport; does not affect estradiol 17-beta-D-glucuronide transport.
Mutagenesis
754 – 754
N -> Q. Does not affect plasma membrane localization; PEG2 transport is decreased by 50%; does not affect estradiol 17-beta-D-glucuronide transport.
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;
A Japanese-specific allele in the GALNT11 gene.
Yuasa I.; Umetsu K.; Matsusue A.; Nishimukai H.; Harihara S.; Fukumori Y.; Saitou N.; Jin F.; Chattopadhyay P.K.; Henke L.; Henke J.;
Leg. Med. 12:208-211(2010)
Cited for: VARIANT LYS-757;
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.