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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q08357: Variant p.Asp28Asn

Sodium-dependent phosphate transporter 2
Gene: SLC20A2
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Variant information Variant position: help 28 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help LP/P [Disclaimer] The variants are classified into three categories: LP/P, LB/B and US.
  • LP/P: likely pathogenic or pathogenic.
  • LB/B: likely benign or benign.
  • US: uncertain significance
Residue change: help From Aspartate (D) to Asparagine (N) at position 28 (D28N, p.Asp28Asn). Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.
Physico-chemical properties: help Change from medium size and acidic (D) to medium size and polar (N) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help 1 The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:
  • Lowest score: -4 (low probability of substitution).
  • Highest score: 11 (high probability of substitution).
More information can be found on the following page
Variant description: help In IBGC1; Impairs phosphate transport; no effect on retroviral receptor function. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 28 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 652 The length of the canonical sequence.
Location on the sequence: help WMVILGFIIAFILAFSVGAN D VANSFGTAVGSGVVTLRQAC 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: help The multiple alignment of the region surrounding the variant against various orthologous sequences. 
Human                         WMVILGFIIAFILAFSVGANDVANSFGTAVGSGVVTLRQAC

Mouse                         WMVILGFIIAFILAFSVGANDVANSFGTAVGSGVVTLRQAC

Rat                           WMVILGFIIAFILAFSVGANDVANSFGTAVGSGVVTLRQAC

Bovine                        WMVILGFIIAFILAFSVGANDVANSFGTAVGSGVVTLRQAC

Cat                           WMVILGFIIAFILAFSVGANDVANSFGTAVGSGVVTLRQAC

Xenopus laevis                WMVIVGFIIAFVLAFSVGANDVANSFGTAVGSGVVTLRQAC

Xenopus tropicalis            WMVIVGFIIAFILAFSVGANDVANSFGTAVGSGVVTLRQAC
Sequence annotation in neighborhood: help 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.
TypePositionsDescription
Chain 1 – 652 Sodium-dependent phosphate transporter 2
Topological domain 27 – 46 Cytoplasmic



Literature citations
Evolutionary and experimental analyses of inorganic phosphate transporter PiT family reveals two related signature sequences harboring highly conserved aspartic acids critical for sodium-dependent phosphate transport function of human PiT2.
Boettger P.; Pedersen L.;
FEBS J. 272:3060-3074(2005)
Cited for: FUNCTION AS SODIUM-PHOSPHATE SYMPORTER; FUNCTION AS RETROVIRAL RECEPTOR (MICROBIAL FUNCTION); SUBUNIT; MUTAGENESIS OF ASP-506; CHARACTERIZATION OF VARIANT IBGC1 ASN-28; TRANSPORTER ACTIVITY; Novel SLC20A2 mutations identified in southern Chinese patients with idiopathic basal ganglia calcification.
Chen W.J.; Yao X.P.; Zhang Q.J.; Ni W.; He J.; Li H.F.; Liu X.Y.; Zhao G.X.; Murong S.X.; Wang N.; Wu Z.Y.;
Gene 529:159-162(2013)
Cited for: VARIANTS IBGC1 LEU-11; ASN-28 AND PRO-62; 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.;
Brain 136:3395-3407(2013)
Cited for: VARIANTS IBGC1 ASN-28; LEU-184; SER-194 AND SER-571;
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.