Variant position: 217 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 456 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 FRGVGMVADPDNPLVLDILT GSSTSYSFFPDKPITQYPHAV
Mouse FRGVGMVADPDNPLVLDILT GSSTSYSFFPDKPITQYPHAV
Rat FRGVGMVADPDNPLVLDILT GSSTSYSFFPDKPITQYPHAV
Pig FRGVGMVADPDNPLVLDILT GSSTSYSFFPDKPITQYPHAV
Bovine FRGVGMVADPDNPLVLDILT GSSTSYSFFPDKPITQYPHAV
Chicken FRGVGMVADPDNPLVLDILT GSSTSYSFFPDKPITQYPHAV
Xenopus laevis FRGVGMVADPDNPLVLDILT GSSTSYSFFPDKPITQYPHAV
Xenopus tropicalis FRGVGMVADPDNPLVLDILT GSSTSYSFFPDKPITQYPHAV
Zebrafish FKGVGMVADPDNPLVLDILT GSSTSYSYFPDRPITQYPHAV
Caenorhabditis elegans FKGIGLVAGKTNNLALSIVR ASGTAYSYDPKAVRATNPSIA
Drosophila YRGTGLIADKENPLVLKLLT AESTAYSYNPEASVSDYPHAV
Slime mold FKGIGHKI-RNNPLNYAILT GSSTAFS--AKAISGVSTKLM
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
43 – 456 Dolichyl-diphosphooligosaccharide--protein glycosyltransferase 48 kDa subunit
43 – 427 Lumenal
DDOST mutations identified by whole-exome sequencing are implicated in congenital disorders of glycosylation.
Jones M.A.; Ng B.G.; Bhide S.; Chin E.; Rhodenizer D.; He P.; Losfeld M.E.; He M.; Raymond K.; Berry G.; Freeze H.H.; Hegde M.R.;
Am. J. Hum. Genet. 90:363-368(2012)
Cited for: VARIANT CDG1R ASP-217;
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.