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UniProtKB/Swiss-Prot P39656: Variant p.Gly217Asp

Dolichyl-diphosphooligosaccharide--protein glycosyltransferase 48 kDa subunit
Gene: DDOST
Variant information

Variant position:  217
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  Disease [Disclaimer]
The variants are classified into three categories: Disease, Polymorphism and Unclassified.
  • Disease: Variants implicated in disease according to literature reports.
  • Polymorphism: Variants not reported to be implicated in disease.
  • Unclassified: Variants with uncertain implication in disease according to literature reports. Evidence against or in favor of a pathogenic role is limited and/or conflicting.

Residue change:  From Glycine (G) to Aspartate (D) at position 217 (G217D, p.Gly217Asp).
Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.

Physico-chemical properties:  Change from glycine (G) to medium size and acidic (D)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  -1
The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:
  • Lowest score: -4 (low probability of substitution).
  • Highest score: 11 (high probability of substitution).
More information can be found on the following page

Involvement in disease:  Congenital disorder of glycosylation 1R (CDG1R) [MIM:614507]: A form of congenital disorder of glycosylation, a multisystem disorder caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions. {ECO:0000269|PubMed:22305527}. Note=The disease is caused by mutations affecting the gene represented in this entry.
The name and a short description of the disease associated with the variant. For more information about the disease, the user can refer to OMIM, following the link provided after the disease acronym.

Variant description:  In CDG1R.
Any additional useful information about the variant.

Other resources:  
Links to websites of interest for the variant.



Sequence information

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:   FRGVGMVADPDNPLVLDILT  G SSTSYSFFPDKPITQYPHAV
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                         FRGVGMVADPDNPLVLDILTGSSTSYSFFPDKPITQYPHAV

                              FRGVGMVADPDNPLVLDILTGSSTSYSFFPDKPITQYPHAV

Mouse                         FRGVGMVADPDNPLVLDILTGSSTSYSFFPDKPITQYPHAV

Rat                           FRGVGMVADPDNPLVLDILTGSSTSYSFFPDKPITQYPHAV

Pig                           FRGVGMVADPDNPLVLDILTGSSTSYSFFPDKPITQYPHAV

Bovine                        FRGVGMVADPDNPLVLDILTGSSTSYSFFPDKPITQYPHAV

Chicken                       FRGVGMVADPDNPLVLDILTGSSTSYSFFPDKPITQYPHAV

Xenopus laevis                FRGVGMVADPDNPLVLDILTGSSTSYSFFPDKPITQYPHAV

Xenopus tropicalis            FRGVGMVADPDNPLVLDILTGSSTSYSFFPDKPITQYPHAV

Zebrafish                     FKGVGMVADPDNPLVLDILTGSSTSYSYFPDRPITQYPHAV

Caenorhabditis elegans        FKGIGLVAGKTNNLALSIVRASGTAYSYDPKAVRATNPSIA

Drosophila                    YRGTGLIADKENPLVLKLLTAESTAYSYNPEASVSDYPHAV

Slime mold                    FKGIGHKI-RNNPLNYAILTGSSTAFS--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.

TypePositionsDescription
Chain 43 – 456 Dolichyl-diphosphooligosaccharide--protein glycosyltransferase 48 kDa subunit
Topological domain 43 – 427 Lumenal


Literature citations

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;

Disclaimer: 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.