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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q9Y223: Variant p.Ala631Val

Bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase
Gene: GNE
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Variant information Variant position: help 631 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help LP/P [Disclaimer] The variants are classified into three categories: LP/P, LB/B and US.
  • LP/P: likely pathogenic or pathogenic.
  • LB/B: likely benign or benign.
  • US: uncertain significance
Residue change: help From Alanine (A) to Valine (V) at position 631 (A631V, p.Ala631Val). Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.
Physico-chemical properties: help Change from small size and hydrophobic (A) to medium size and hydrophobic (V) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help 0 The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:
  • Lowest score: -4 (low probability of substitution).
  • Highest score: 11 (high probability of substitution).
More information can be found on the following page
Variant description: help In NM; does not affect homohexamers formation. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 631 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 722 The length of the canonical sequence.
Location on the sequence: help VEGMSVPKDEAVGALHLIQA A KLGNAKAQSILRTAGTALGL 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: help The multiple alignment of the region surrounding the variant against various orthologous sequences. 
Human                         VEGMSVPKDEAVGALHLIQAAKLGNAKAQSILRTAGTALGL

Mouse                         VEGMSVPKDEAVGALHLIQAAKLGNVKAQSILRTAGTALGL

Rat                           VEGMSVPKDEAVGALHLIQAAKLGNVKAQSILRTAGTALGL
Sequence annotation in neighborhood: help 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.
TypePositionsDescription
Chain 1 – 722 Bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase
Region 406 – 722 N-acetylmannosamine kinase
Helix 624 – 632



Literature citations
Crystal structures of N-acetylmannosamine kinase provide insights into enzyme activity and inhibition.
Martinez J.; Nguyen L.D.; Hinderlich S.; Zimmer R.; Tauberger E.; Reutter W.; Saenger W.; Fan H.; Moniot S.;
J. Biol. Chem. 287:13656-13665(2012)
Cited for: X-RAY CRYSTALLOGRAPHY (1.64 ANGSTROMS) OF 406-720 IN COMPLEX WITH N-ACYL-D-MANNOSAMINE; N-ACYL-D-MANNOSAMINE 6-PHOSPHATE; ADP; MAGNESIUM AND ZINC; ZINC-BINDING SITES; ACTIVE SITE; SUBUNIT; MUTAGENESIS OF ASP-517; CHARACTERIZATION OF VARIANTS SER-519; CYS-528; THR-587; VAL-631; THR-631 AND THR-712; Distal myopathy with rimmed vacuoles: novel mutations in the GNE gene.
Tomimitsu H.; Ishikawa K.; Shimizu J.; Ohkoshi N.; Kanazawa I.; Mizusawa H.;
Neurology 59:451-454(2002)
Cited for: VARIANTS NM LEU-572 AND VAL-631; 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.;
Neurology 59:1689-1693(2002)
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 in an American family with quadriceps-sparing IBM and lack of mutations in s-IBM.
Vasconcelos O.M.; Raju R.; Dalakas M.C.;
Neurology 59:1776-1779(2002)
Cited for: VARIANTS NM ALA-216 AND VAL-631; 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; Reduction of UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase activity and sialylation in distal myopathy with rimmed vacuoles.
Noguchi S.; Keira Y.; Murayama K.; Ogawa M.; Fujita M.; Kawahara G.; Oya Y.; Imazawa M.; Goto Y.; Hayashi Y.K.; Nonaka I.; Nishino I.;
J. Biol. Chem. 279:11402-11407(2004)
Cited for: VARIANTS NM SER-13; VAL-176; VAL-524; LEU-572 AND SER-708; CHARACTERIZATION OF VARIANTS NM SER-13; GLN-132; VAL-176; CYS-177; ALA-331; TYR-378; THR-472; VAL-524; LEU-572; THR-630; VAL-631 AND SER-708; FUNCTION; CATALYTIC ACTIVITY; PATHWAY;
Disclaimer: 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.