Expasy logo

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q9H0U3: Variant p.Lys324Asn

Dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit MAGT1
Gene: MAGT1
Feedback?
Variant information Variant position: help 324 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 Lysine (K) to Asparagine (N) at position 324 (K324N, p.Lys324Asn). 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 large size and basic (K) to medium size and polar (N) 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 CDG1CC; no effect on protein expression; decreased protein N-linked glycosylation of STT3B-specific substrates. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 324 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 335 The length of the canonical sequence.
Location on the sequence: help VAGIGLVVLFFSWMLSIFRS K YHGYPYSFLMS 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                         VAGIGLVVLFFSWMLSIFRSKYHGYPYSFLMS

Mouse                         IAGIGLVVLFFSWMLSIFRSKYHGYPYSFLMS

Rat                           IAGIGLVVLFFSWMLSIFRSKYHGYPYSFLMS

Chicken                       IAGIGLVVFFFSWLLSVFRSKYHGYPYSFLMS

Xenopus laevis                IAGITLVVIFFSWLLSVFRSKYHGYPYSFLMT

Zebrafish                     VAGIGLVVLFFSWLLSVFRAKYHGYPYSFLFG
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 30 – 335 Dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit MAGT1
Topological domain 322 – 335 Extracellular
Alternative sequence 135 – 335 Missing. In isoform 2.
Helix 296 – 324



Literature citations
Mutations in MAGT1 lead to a glycosylation disorder with a variable phenotype.
Blommaert E.; Peanne R.; Cherepanova N.A.; Rymen D.; Staels F.; Jaeken J.; Race V.; Keldermans L.; Souche E.; Corveleyn A.; Sparkes R.; Bhattacharya K.; Devalck C.; Schrijvers R.; Foulquier F.; Gilmore R.; Matthijs G.;
Proc. Natl. Acad. Sci. U.S.A. 116:9865-9870(2019)
Cited for: INVOLVEMENT IN CDG1CC; VARIANT XMEN 313-PHE--SER-335 DEL; VARIANTS CDG1CC ASN-324 AND 331-SER--SER-335 DEL; CHARACTERIZATION OF VARIANT XMEN 313-PHE--SER-335 DEL; CHARACTERIZATION OF VARIANTS CDG1CC ASN-324 AND 331-SER--SER-335 DEL; FUNCTION; TISSUE SPECIFICITY;
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.