UniProtKB/SwissProt variant VAR

Bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase
Gene: GNE
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Variant information Variant position:

572 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant:

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:

From Valine (V) to Leucine (L) at position 572 (V572L, p.Val572Leu). 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:

Similar physico-chemical property. Both residues are medium size and hydrophobic. The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

1 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:

In NM and THC12; likely pathogenic; mildly decreased UDP-N-acetylglucosamine 2-epimerase activity; decreased N-acylmannosamine kinase activity corresponding to less than 10% of wild-type activity; does not affect homohexamers formation. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs121908632 [ dbSNP | Ensembl ]

Sequence information Variant position:

572 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:

HQHELIHGSSFCAAELGHLV V SLDGPDCSCGSHGCIEAYAS 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                         HQHELIHGSSFCAAELGHLVVSLDGPDCSCGSHGCIEAYAS

Mouse                         HQHELIHGSSFCAAELGHLVVSLDGPDCSCGSHGCIEAYAS

Rat                           HQHELIHGSSFCAAELGHLVVSLDGPDCSCGSHGCIEAYAS

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
Chain	1 – 722	Bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase
Region	406 – 722	N-acetylmannosamine kinase
Binding site	566 – 566
Binding site	569 – 569
Binding site	569 – 569
Binding site	569 – 569
Binding site	579 – 579
Binding site	581 – 581
Binding site	586 – 586
Binding site	588 – 588
Binding site	588 – 588
Beta strand	571 – 574

Literature citations
A novel mutation in the GNE gene and a linkage disequilibrium in Japanese pedigrees.
Arai A.; Tanaka K.; Ikeuchi T.; Igarashi S.; Kobayashi H.; Asaka T.; Date H.; Saito M.; Tanaka H.; Kawasaki S.; Uyama E.; Mizusawa H.; Fukuhara N.; Tsuji S.;
Ann. Neurol. 52:516-519(2002)
Cited for: VARIANT NM LEU-572; Nonaka myopathy is caused by mutations in the UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase gene (GNE).
Kayashima T.; Matsuo H.; Satoh A.; Ohta T.; Yoshiura K.; Matsumoto N.; Nakane Y.; Niikawa N.; Kishino T.;
J. Hum. Genet. 47:77-79(2002)
Cited for: VARIANTS NM VAL-460 AND LEU-572; 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; 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; 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; GNE mutations causing distal myopathy with rimmed vacuoles with inflammation.
Yabe I.; Higashi T.; Kikuchi S.; Sasaki H.; Fukazawa T.; Yoshida K.; Tashiro K.;
Neurology 61:384-386(2003)
Cited for: VARIANTS NM THR-472 AND LEU-572; 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; GNE myopathy associated with congenital thrombocytopenia: a report of two siblings.
Izumi R.; Niihori T.; Suzuki N.; Sasahara Y.; Rikiishi T.; Nishiyama A.; Nishiyama S.; Endo K.; Kato M.; Warita H.; Konno H.; Takahashi T.; Tateyama M.; Nagashima T.; Funayama R.; Nakayama K.; Kure S.; Matsubara Y.; Aoki Y.; Aoki M.;
Neuromuscul. Disord. 24:1068-1072(2014)
Cited for: VARIANTS THC12 LEU-572 AND SER-708; INVOLVEMENT IN THC12;

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.

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q9Y223: Variant p.Val572Leu