Variant position: 468 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 599 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 LIHFFFNLAGILLWYLVPAL RLPIPLARHFGVVTARYRWVA
Mouse LIHFFFNLAGILLWYLVPVL RLPIPLAKRFGNLTAQYRWVA
Rat LIHFFFNLAGILLWYLVPVL RLPIPLAKRFGDLTAQYRWVA
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 – 599 Sodium-dependent phosphate transport protein 2C
467 – 485 Cytoplasmic
SLC34A3 mutations in patients with hereditary hypophosphatemic rickets with hypercalciuria predict a key role for the sodium-phosphate cotransporter NaPi-IIc in maintaining phosphate homeostasis.
Bergwitz C.; Roslin N.M.; Tieder M.; Loredo-Osti J.C.; Bastepe M.; Abu-Zahra H.; Frappier D.; Burkett K.; Carpenter T.O.; Anderson D.; Garabedian M.; Sermet I.; Fujiwara T.M.; Morgan K.; Tenenhouse H.S.; Jueppner H.;
Am. J. Hum. Genet. 78:179-192(2006)
Cited for: VARIANTS HHRH PHE-138; LEU-192; ARG-196 AND TRP-468; VARIANT VAL-513;
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