Variant position: 557 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 FVTLITGTGIGGGIIHQHEL IHGSSFCAAELGHLVVSLDGP
Mouse FVTLITGTGIGGGIIHQHEL IHGSSFCAAELGHLVVSLDGP
Rat FVTLITGTGIGGGIIHQHEL IHGSSFCAAELGHLVVSLDGP
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
569 – 569 Zinc
566 – 566 Substrate
569 – 569 Substrate
Mutations spectrum of GNE in hereditary inclusion body myopathy sparing the quadriceps.
Eisenberg I.; Grabov-Nardini G.; Hochner H.; Korner M.; Sadeh M.; Bertorini T.; Bushby K.; Castellan C.; Felice K.; Mendell J.; Merlini L.; Shilling C.; Wirguin I.; Argov Z.; Mitrani-Rosenbaum S.;
Hum. Mutat. 21:99-99(2003)
Cited for: VARIANTS NM LEU-36; PHE-200; ASN-225; GLN-246; VAL-303; TYR-378; VAL-460; CYS-528; THR-557; LEU-572; GLU-576; THR-587; THR-631; VAL-631; MET-696 AND THR-712;
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.