Variant position: 712 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 QDVDVVVSDLVDPALLGAAS MVLDYTTRRIY
Mouse QDVDVVVSDLVDPALLGAAS MVLDYTTRRIH
Rat QDVDVVVSDLVDPALLGAAS MVLDYTTRRIH
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
704 – 716
The UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase gene is mutated in recessive hereditary inclusion body myopathy.
Eisenberg I.; Avidan N.; Potikha T.; Hochner H.; Chen M.; Olender T.; Barash M.; Shemesh M.; Sadeh M.; Grabov-Nardini G.; Shmilevich I.; Friedmann A.; Karpati G.; Bradley W.G.; Baumbach L.; Lancet D.; Asher E.B.; Beckmann J.S.; Argov Z.; Mitrani-Rosenbaum S.;
Nat. Genet. 29:83-87(2001)
Cited for: VARIANTS NM ASN-225; GLN-246; GLU-576; THR-631; MET-696 AND THR-712;
Four novel mutations associated with autosomal recessive inclusion body myopathy (MIM: 600737).
Darvish D.; Vahedifar P.; Huo Y.;
Mol. Genet. Metab. 77:252-256(2002)
Cited for: VARIANTS NM ASN-225; GLN-246; TRP-246; VAL-460; VAL-524; LEU-572; GLU-576; THR-631; HIS-675; MET-696 AND THR-712;
An Italian family with autosomal recessive inclusion-body myopathy and mutations in the GNE gene.
Broccolini A.; Pescatori M.; D'Amico A.; Sabino A.; Silvestri G.; Ricci E.; Servidei S.; Tonali P.A.; Mirabella M.;
Cited for: VARIANTS NM VAL-171 AND THR-712;
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;
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