Variant position: 68 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 LNASGTIKESGVLVHEGDRG RQENTQDGHKGEGNGSKWAEV
Mouse LSINSTTSNSNDSPDGSEIG EQVLSEDGYKRDGNGSESIHV
Rat LHINNATND--DSPKGSELG RQVHSNGGYERDRNGSESIAV
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
49 – 49 N-linked (GlcNAc...) asparagine
81 – 81 N-linked (GlcNAc...) asparagine
Clinical, histopathologic, and genetic investigation in two large families with dentinogenesis imperfecta type II.
Malmgren B.; Lindskog S.; Elgadi A.; Norgren S.;
Hum. Genet. 114:491-498(2004)
Cited for: VARIANTS DGI2 VAL-15 AND TRP-68;
DMP1 mutations in autosomal recessive hypophosphatemia implicate a bone matrix protein in the regulation of phosphate homeostasis.
Lorenz-Depiereux B.; Bastepe M.; Benet-Pages A.; Amyere M.; Wagenstaller J.; Mueller-Barth U.; Badenhoop K.; Kaiser S.M.; Rittmaster R.S.; Shlossberg A.H.; Olivares J.L.; Loris C.; Ramos F.J.; Glorieux F.; Vikkula M.; Jueppner H.; Strom T.M.;
Nat. Genet. 38:1248-1250(2006)
Cited for: VARIANT TRP-68;
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