Variant position: 571 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 652 The length of the canonical sequence.
Location on the sequence:
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 WGRRVIQTMGKDLTPITPSS GFTIELASAFTVVIASNIGLP
Mouse WGRRVIQTMGKDLTPITPSS GFTIELASAFTVVIASNIGLP
Rat WGRRVIQTMGKDLTPITPSS GFTIELASAFTVVIASNIGLP
Bovine WGRRVIQTMGKDLTPITPSS GFTIELASAFTVVIASNIGLP
Cat WGRRVIQTMGKDLTPITPSS GFTIELASAFTVVIASNVGLP
Xenopus laevis WGRRVIQTMGKDLTPITPSS GFTIELASAFTVVVASNIGLP
Xenopus tropicalis WGRRVIQTMGKDLTPITPSS GFTIELASAFTVVVASNIGLP
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
1 – 652 Sodium-dependent phosphate transporter 2
552 – 571 Cytoplasmic
575 – 575 E -> DK. Abolishes sodium-dependent phosphate transport; no effect on retroviral receptor function.
575 – 575 E -> Q. Abolishes phosphate but not sodium uptake; when associated with Q-55 and Q-91.
Phenotypic spectrum of probable and genetically-confirmed idiopathic basal ganglia calcification.
Nicolas G.; Pottier C.; Charbonnier C.; Guyant-Marechal L.; Le Ber I.; Pariente J.; Labauge P.; Ayrignac X.; Defebvre L.; Maltete D.; Martinaud O.; Lefaucheur R.; Guillin O.; Wallon D.; Chaumette B.; Rondepierre P.; Derache N.; Fromager G.; Schaeffer S.; Krystkowiak P.; Verny C.; Jurici S.; Sauvee M.; Verin M.; Lebouvier T.; Rouaud O.; Thauvin-Robinet C.; Rousseau S.; Rovelet-Lecrux A.; Frebourg T.; Campion D.; Hannequin D.;
Cited for: VARIANTS IBGC1 ASN-28; LEU-184; SER-194 AND SER-571;
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