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UniProtKB/Swiss-Prot Q9H3H5: Variant p.Val117Ile

UDP-N-acetylglucosamine--dolichyl-phosphate N-acetylglucosaminephosphotransferase
Gene: DPAGT1
Variant information

Variant position:  117
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  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:  From Valine (V) to Isoleucine (I) at position 117 (V117I, p.Val117Ile).
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:  Similar physico-chemical property. Both residues are medium size and hydrophobic.
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  3
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:  In CMS13; mildly reduced enzyme activity.
Any additional useful information about the variant.

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

Sequence information

Variant position:  117
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  408
The length of the canonical 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.







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.

Chain 1 – 408 UDP-N-acetylglucosamine--dolichyl-phosphate N-acetylglucosaminephosphotransferase
Transmembrane 92 – 118 Helical; Name=Helix 3
Binding site 119 – 119 Inhibitor
Binding site 125 – 125 Dolichol phosphate
Mutagenesis 103 – 103 L -> F. Impairs protein stability.
Mutagenesis 114 – 114 A -> G. No significant effect on enzyme activity.
Mutagenesis 115 – 115 D -> AN. Strongly reduced enzyme activity.
Mutagenesis 115 – 115 D -> E. Mildly reduced enzyme activity.
Mutagenesis 116 – 116 D -> AN. Strongly reduced enzyme activity.
Mutagenesis 122 – 122 W -> A. Strongly reduced enzyme activity.
Mutagenesis 125 – 125 K -> AEN. Loss of enzyme activity.
Helix 92 – 118

Literature citations

Mutations in DPAGT1 cause a limb-girdle congenital myasthenic syndrome with tubular aggregates.
Belaya K.; Finlayson S.; Slater C.R.; Cossins J.; Liu W.W.; Maxwell S.; McGowan S.J.; Maslau S.; Twigg S.R.; Walls T.J.; Pascual Pascual S.I.; Palace J.; Beeson D.;
Am. J. Hum. Genet. 91:193-201(2012)
Cited for: VARIANTS CMS13 ILE-108; ILE-117; MET-120; SER-160; SER-192 AND GLY-264;

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.