Expasy logo

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q8WZA1: Variant p.Pro493Arg

Protein O-linked-mannose beta-1,2-N-acetylglucosaminyltransferase 1
Gene: POMGNT1
Feedback?
Variant information Variant position: help 493 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 Proline (P) to Arginine (R) at position 493 (P493R, p.Pro493Arg). 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 hydrophobic (P) to large size and basic (R) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -2 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 MDDGA3; specific activity abolished. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 493 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 660 The length of the canonical sequence.
Location on the sequence: help WDWDMWMRMPEQRRGRECII P DVSRSYHFGIVGLNMNGYFH 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                         WDWDMWMRMPEQRRGRECIIPDVSRSYHFGIVGLNMNGYFH

Mouse                         WDWDMWMRMPEQRRGRECIIPDVSRSYHFGIVGLNMNGYFH

Rat                           WDWDMWMRMPEQRRGRECIIPDVSRSYHFGIVGLNMNGYFH

Bovine                        WDWDMWMRMPEQRRGRECIIPDVSRSYHFGIVGLNMNGYFH
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 – 660 Protein O-linked-mannose beta-1,2-N-acetylglucosaminyltransferase 1
Topological domain 59 – 660 Lumenal
Region 300 – 646 Catalytic
Binding site 500 – 500
Mutagenesis 473 – 473 W -> A. Abolishes in vitro enzyme activity; when associated with A-477.
Mutagenesis 474 – 474 D -> A. Nearly abolishes enzyme activity.
Mutagenesis 477 – 477 M -> A. Abolishes in vitro enzyme activity; when associated with A-473.
Mutagenesis 481 – 481 M -> A. Decreased enzyme activity.
Mutagenesis 507 – 507 N -> A. Abolishes enzyme activity.
Beta strand 489 – 500



Literature citations
Muscular dystrophy and neuronal migration disorder caused by mutations in a glycosyltransferase, POMGnT1.
Yoshida A.; Kobayashi K.; Manya H.; Taniguchi K.; Kano H.; Mizuno M.; Inazu T.; Mitsuhashi H.; Takahashi S.; Takeuchi M.; Herrmann R.; Straub V.; Talim B.; Voit T.; Topaloglu H.; Toda T.; Endo T.;
Dev. Cell 1:717-724(2001)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); FUNCTION; CATALYTIC ACTIVITY; PATHWAY; SUBCELLULAR LOCATION; TOPOLOGY; BIOPHYSICOCHEMICAL PROPERTIES; TISSUE SPECIFICITY; VARIANTS MDDGA3 ARG-493 AND ASN-550; VARIANT VAL-623; MUTAGENESIS OF 1-MET--ILE-65; Loss-of-function of an N-acetylglucosaminyltransferase, POMGnT1, in muscle-eye-brain disease.
Manya H.; Sakai K.; Kobayashi K.; Taniguchi K.; Kawakita M.; Toda T.; Endo T.;
Biochem. Biophys. Res. Commun. 306:93-97(2003)
Cited for: CHARACTERIZATION OF VARIANTS MDDGA3 LYS-223; TYR-269 AND ARG-493; CATALYTIC ACTIVITY; COFACTOR;
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.