Variant position: 472 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 722 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 MCVEAAAEAVKLNCRILGVG ISTGGRVNPREGIVLHSTKLI
Mouse MCVEAAAEAVKLNCRILGVG ISTGGRVNPQEGVVLHSTKLI
Rat MCVEAAAEAVKLNCRILGVG ISTGGRVNPQEGVVLHSTKLI
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 – 722 Bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase
406 – 722 N-acetylmannosamine kinase
477 – 477 Substrate
489 – 489 Substrate
471 – 544 Missing. In isoform 4.
465 – 479
Distal myopathy with rimmed vacuoles is allelic to hereditary inclusion body myopathy.
Nishino I.; Noguchi S.; Murayama K.; Driss A.; Sugie K.; Oya Y.; Nagata T.; Chida K.; Takahashi T.; Takusa Y.; Ohi T.; Nishimiya J.; Sunohara N.; Ciafaloni E.; Kawai M.; Aoki M.; Nonaka I.;
Cited for: VARIANTS NM GLN-132; VAL-176; CYS-177; GLN-306; ALA-331; TYR-378; THR-472; LEU-572; THR-630 AND VAL-631;
GNE mutations causing distal myopathy with rimmed vacuoles with inflammation.
Yabe I.; Higashi T.; Kikuchi S.; Sasaki H.; Fukazawa T.; Yoshida K.; Tashiro K.;
Cited for: VARIANTS NM THR-472 AND LEU-572;
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