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.
Location on the 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.
Human ALIGALLAICCMIFLGFADD VLNLRWRHKLLLPTAASLPLL
Mouse ALIGALLAICCMIFLGFADD VLNLRWRHKLLLPTAASLPLL
Bovine ALIGALLAICCMIFLGFADD VLNLRWRHKLLLPTAASLPLL
Slime mold EYNAALTSICFMILLGFGDD VLNLRWRYKLILPMFASLPLL
Baker's yeast EYLSAILCLESTVLLGIADD LFDLRWRHKFFLPAIAAIPLL
Fission yeast AYLSALLSILSVSLLGILDD LFDIRWRHKFFLPAIAAIPLL
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.
Type Positions Description
1 – 408 UDP-N-acetylglucosamine--dolichyl-phosphate N-acetylglucosaminephosphotransferase
92 – 118 Helical; Name=Helix 3
119 – 119 Inhibitor
125 – 125 Dolichol phosphate
103 – 103 L -> F. Impairs protein stability.
114 – 114 A -> G. No significant effect on enzyme activity.
115 – 115 D -> AN. Strongly reduced enzyme activity.
115 – 115 D -> E. Mildly reduced enzyme activity.
116 – 116 D -> AN. Strongly reduced enzyme activity.
122 – 122 W -> A. Strongly reduced enzyme activity.
125 – 125 K -> AEN. Loss of enzyme activity.
92 – 118
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;
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.