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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q9Y223: Variant p.Pro704Arg

Bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase
Gene: GNE
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Variant information Variant position: help 704 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 Proline (P) to Arginine (R) at position 704 (P704R, p.Pro704Arg). 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 medium size and hydrophobic (P) to large size and basic (R) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -2 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 THC12; likely pathogenic; the orthologous mutation in mouse embryos results in cerebrospinal hemorrhages and defective angiogenesis; results in loss of cell surface sialylation. Any additional useful information about the variant.


Sequence information Variant position: help 704 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 RQQALSSVQDVDVVVSDLVD P ALLGAASMVLDYTTRRIY 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                         RQQALSSVQDVDVVVSDLVDPALLGAASMVLDYTTRRIY

Mouse                         RQQALSSVQDVDVVVSDLVDPALLGAASMVLDYTTRRIH

Rat                           RQQALSSVQDVDVVVSDLVDPALLGAASMVLDYTTRRIH
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 704 – 716



Literature citations
Novel GNE missense variants impair de novo sialylation and cause defective angiogenesis in the developing brain in mice.
Huang L.; Kondo Y.; Cao L.; Han J.; Li T.; Zuo B.; Yang F.; Li Y.; Ma Z.; Bai X.; Jiang M.; Ruan C.; Xia L.;
Blood Adv. 8:991-1001(2024)
Cited for: VARIANTS THC12 TYR-563 AND ARG-704; CHARACTERIZATION OF VARIANTS THC12 TYR-563 AND ARG-704; FUNCTION;
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.