Home  |  Contact

UniProtKB/Swiss-Prot Q8NES3: Variant p.Phe188Leu

Beta-1,3-N-acetylglucosaminyltransferase lunatic fringe
Gene: LFNG
Variant information

Variant position:  188
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  Disease [Disclaimer]
The variants are classified into three categories: Disease, Polymorphism and Unclassified.
  • Disease: Variants implicated in disease according to literature reports.
  • Polymorphism: Variants not reported to be implicated in disease.
  • Unclassified: Variants with uncertain implication in disease according to literature reports. Evidence against or in favor of a pathogenic role is limited and/or conflicting.

Residue change:  From Phenylalanine (F) to Leucine (L) at position 188 (F188L, p.Phe188Leu).
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:  Change from large size and aromatic (F) to medium size and hydrophobic (L)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  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

Involvement in disease:  Spondylocostal dysostosis 3, autosomal recessive (SCDO3) [MIM:609813]: A condition of variable severity associated with vertebral and rib segmentation defects. The main skeletal malformations include fusion of vertebrae, hemivertebrae, fusion of certain ribs, and other rib malformations. Deformity of the chest and spine (severe scoliosis, kyphoscoliosis and lordosis) is a natural consequence of the malformation and leads to a dwarf-like appearance. As the thorax is small, infants frequently have respiratory insufficiency and repeated respiratory infections resulting in life-threatening complications in the first year of life. {ECO:0000269|PubMed:16385447}. Note=The disease is caused by mutations affecting the gene represented in this entry.
The name and a short description of the disease associated with the variant. For more information about the disease, the user can refer to OMIM, following the link provided after the disease acronym.

Variant description:  In SCDO3; not localized to the correct compartment of the cell; unable to modulate Notch signaling in a cell-based assay; enzymatically inactive.
Any additional useful information about the variant.

Other resources:  
Links to websites of interest for the variant.



Sequence information

Variant position:  188
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  379
The length of the canonical sequence.

Location on the sequence:   CSAAHSRQALSCKMAVEYDR  F IESGRKWFCHVDDDNYVNLR
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                         CSAAHSRQALSCKMAVEYDRFIESGRKWFCHVDDDNYVNLR

Mouse                         CSSAHSRQALSCKMAVEYDRFIESGKKWFCHVDDDNYVNLR

Rat                           CSAAHSRQALSCKMAVEYDRFIESGKKWFCHVDDDNYVNLR

Bovine                        CSAAHSRQALSCKMAVEYDRFIESGRKWFCHVDDDNYVNVR

Chicken                       CSAAHSRQALSCKMAVEYDKFIESGRKWFCHVDDDNYVNVR

Xenopus laevis                CSAAHSRQALSCKMAVEYDKFIESDKKWFCHVDDDNYVNVR

Zebrafish                     CSAAHSRQALSCKMAVEYDKFIESGKKWFCHVDDDNYVNTK

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.

TypePositionsDescription
Chain 1 – 379 Beta-1,3-N-acetylglucosaminyltransferase lunatic fringe
Topological domain 30 – 379 Lumenal
Metal binding 202 – 202 Manganese
Binding site 201 – 201 Substrate


Literature citations

Mutation of the LUNATIC FRINGE gene in humans causes spondylocostal dysostosis with a severe vertebral phenotype.
Sparrow D.B.; Chapman G.; Wouters M.A.; Whittock N.V.; Ellard S.; Fatkin D.; Turnpenny P.D.; Kusumi K.; Sillence D.; Dunwoodie S.L.;
Am. J. Hum. Genet. 78:28-37(2006)
Cited for: VARIANT SCDO3 LEU-188; CHARACTERIZATION OF VARIANT SCDO3 LEU-188;

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.