Variant position: 18 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 1301 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 MKIITYFCIWAVAWAIP VPQSKPLERH-VEKSMNLHLLA
Mouse MKIIIYICIWATAWAIP VPQLVPLERDIVENSVAVPLL
Rat TKIIIYICIWATAWAIP VPQLVPLERDIVEKSADVPFL
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
16 – 1301 Dentin sialophosphoprotein
16 – 462 Dentin sialoprotein
Identification of the DSPP mutation in a new kindred and phenotype-genotype correlation.
Lee S.K.; Lee K.E.; Hwang Y.H.; Kida M.; Tsutsumi T.; Ariga T.; Park J.C.; Kim J.W.;
Oral Dis. 17:314-319(2011)
Cited for: VARIANT DGI2 ASP-18;
Rough endoplasmic reticulum trafficking errors by different classes of mutant dentin sialophosphoprotein (DSPP) cause dominant negative effects in both dentinogenesis imperfecta and dentin dysplasia by entrapping normal DSPP.
von Marschall Z.; Mok S.; Phillips M.D.; McKnight D.A.; Fisher L.W.;
J. Bone Miner. Res. 27:1309-1321(2012)
Cited for: CHARACTERIZATION OF VARIANT DFNA39/DGI1 THR-17; CHARACTERIZATION OF VARIANTS DGI2 VAL-15; SER-17 AND ASP-18;
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