Variant position: 595 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 ELASAFTVVIASNIGLPVST THCKVGSVVAVGWIRSRKAVD
Mouse ELASAFTVVIASNIGLPVST THCKVGSVVAVGWIRSRKAVD
Rat ELASAFTVVIASNIGLPVST THCKVGSVVAVGWIRSRKAVD
Bovine ELASAFTVVIASNIGLPVST THCKVGSVVAVGWIRSRKAVD
Cat ELASAFTVVIASNVGLPVST THCKVGSVVAVGWIRSRKAVD
Xenopus laevis ELASAFTVVVASNIGLPIST THCKVGSVVAVGWIRSRKAVD
Xenopus tropicalis ELASAFTVVVASNIGLPIST THCKVGSVVAVGWIRSRKAVD
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
594 – 609 Helical
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.
Mutations in SLC20A2 link familial idiopathic basal ganglia calcification with phosphate homeostasis.
Wang C.; Li Y.; Shi L.; Ren J.; Patti M.; Wang T.; de Oliveira J.R.; Sobrido M.J.; Quintans B.; Baquero M.; Cui X.; Zhang X.Y.; Wang L.; Xu H.; Wang J.; Yao J.; Dai X.; Liu J.; Zhang L.; Ma H.; Gao Y.; Ma X.; Feng S.; Liu M.; Wang Q.K.; Forster I.C.; Zhang X.; Liu J.Y.;
Nat. Genet. 44:254-256(2012)
Cited for: VARIANTS IBGC1 VAL-42 DEL; ARG-498; LYS-575; MET-595; TRP-601 AND LEU-601; CHARACTERIZATION OF VARIANTS IBGC1 VAL-42 DEL; ARG-498; LYS-575; MET-595; TRP-601 AND LEU-601;
Primary familial brain calcification: Genetic analysis and clinical spectrum.
Taglia I.; Mignarri A.; Olgiati S.; Menci E.; Petrocelli P.L.; Breedveld G.J.; Scaglione C.; Martinelli P.; Federico A.; Bonifati V.; Dotti M.T.;
Mov. Disord. 29:1691-1695(2014)
Cited for: VARIANTS IBGC1 TRP-434 AND MET-595;
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.