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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P46977: Variant p.His46Arg

Dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit STT3A
Gene: STT3A
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Variant information Variant position: help 46 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help LP/P [Disclaimer] The variants are classified into three categories: LP/P, LB/B and US.
  • LP/P: likely pathogenic or pathogenic.
  • LB/B: likely benign or benign.
  • US: uncertain significance
Residue change: help From Histidine (H) to Arginine (R) at position 46 (H46R, p.His46Arg). 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: help Change from medium size and polar (H) to large size and basic (R) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help 0 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
Variant description: help In CDG1WAD; partial loss of function, when tested in a heterologous system; does not affect expression levels. Any additional useful information about the variant.


Sequence information Variant position: help 46 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 705 The length of the canonical sequence.
Location on the sequence: help AAVLSFSTRLFAVLRFESVI H EFDPYFNYRTTRFLAEEGFY 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: help The multiple alignment of the region surrounding the variant against various orthologous sequences. 
Human                         AAVLSFSTRLFAVLRFESVIHEFDPYFNYRTTRFLAEEGFY

Mouse                         AAVLSFSTRLFAVLRFESVIHEFDPYFNYRTTRFLAEEGFY

Bovine                        AAVLSFSTRLFAVLRFESVIHEFDPYFNYRTTRFLAEEGFY
Sequence annotation in neighborhood: help 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 1 – 705 Dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit STT3A
Topological domain 39 – 119 Lumenal
Binding site 49 – 49
Site 49 – 49 Interacts with target acceptor peptide in protein substrate
Alternative sequence 1 – 92 Missing. In isoform 2.



Literature citations
Active site variants in STT3A cause a dominant type I congenital disorder of glycosylation with neuromusculoskeletal findings.
Wilson M.P.; Garanto A.; Pinto e Vairo F.; Ng B.G.; Ranatunga W.K.; Ventouratou M.; Baerenfaenger M.; Huijben K.; Thiel C.; Ashikov A.; Keldermans L.; Souche E.; Vuillaumier-Barrot S.; Dupre T.; Michelakakis H.; Fiumara A.; Pitt J.; White S.M.; Lim S.C.; Gallacher L.; Peters H.; Rymen D.; Witters P.; Ribes A.; Morales-Romero B.; Rodriguez-Palmero A.; Ballhausen D.; de Lonlay P.; Barone R.; Janssen M.C.H.; Jaeken J.; Freeze H.H.; Matthijs G.; Morava E.; Lefeber D.J.;
Am. J. Hum. Genet. 108:2130-2144(2021)
Cited for: INVOLVEMENT IN CDG1WAD; VARIANTS CDG1WAD ARG-46; GLN-160; CYS-329; CYS-405; HIS-405; SER-530 AND ILE-546; CHARACTERIZATION OF VARIANTS CDG1WAD ARG-46; GLN-160; CYS-329; CYS-405; SER-530 AND ILE-546; FUNCTION;
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.