Variant position: 15 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 MKIITYFCIWAVAW AIPVPQSKPLERH-VEKSMNLH
Mouse MKIIIYICIWATAW AIPVPQLVPLERDIVENSVAV
Rat TKIIIYICIWATAW AIPVPQLVPLERDIVEKSADV
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 – 15
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;
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;
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.