Variant position: 265 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 660 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 PLSSAEEAECHWADTELNRR RRRFCSKVEGYGSVCSCKDPT
Mouse PLSSAEEAECHWADTELNRR RRRFCSKVEGYGSVCSCKDPT
Rat PLSSAEEAECHWADTELNRR RRRFCSKVEGYGSVCSCKDPT
Bovine PLSSAEEAECHWADTELNRR RRRFCSKVEGYGSVCSCKDPT
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 – 660 Protein O-linked-mannose beta-1,2-N-acetylglucosaminyltransferase 1
59 – 660 Lumenal
92 – 288 Carbohydrate-binding stem domain
263 – 267 Poly-Arg
254 – 281
261 – 269
POMGnT1 gene alterations in a family with neurological abnormalities.
Vervoort V.S.; Holden K.R.; Ukadike K.C.; Collins J.S.; Saul R.A.; Srivastava A.K.;
Ann. Neurol. 56:143-148(2004)
Cited for: VARIANTS MDDGA3 HIS-265; GLN-311 AND CYS-442;
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