Variant position: 835 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 931 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 VSEEPTGIDLPLLDPANTIT TVTGPSAFSIPLPIRQKLCSS
Mouse VSEEPTGIDLPLLDPASTIT TVTGPSAFSIPLPIRQKLCSS
Rat VSEEPTGIDLPLLDPASTIT TVTGPSAFSIPLPIRQKLCSS
Chicken VSEEPTGIDYPIMDSAGSIT TIVGPNAFSIPLPIRQKLCSS
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
41 – 931 Netrin receptor UNC5C
402 – 931 Cytoplasmic
402 – 931 Required for netrin-mediated axon repulsion of neuronal growth cones
579 – 931 Missing. In isoform 2.
A rare mutation in UNC5C predisposes to late-onset Alzheimer's disease and increases neuronal cell death.
Wetzel-Smith M.K.; Hunkapiller J.; Bhangale T.R.; Srinivasan K.; Maloney J.A.; Atwal J.K.; Sa S.M.; Yaylaoglu M.B.; Foreman O.; Ortmann W.; Rathore N.; Hansen D.V.; Tessier-Lavigne M.; Mayeux R.; Pericak-Vance M.; Haines J.; Farrer L.A.; Schellenberg G.D.; Goate A.; Behrens T.W.; Cruchaga C.; Watts R.J.; Graham R.R.;
Nat. Med. 20:1452-1457(2014)
Cited for: SUBCELLULAR LOCATION; TISSUE SPECIFICITY; INVOLVEMENT IN AD; VARIANT AD MET-835; CHARACTERIZATION OF VARIANT AD MET-835;
An Alzheimer Disease-linked Rare Mutation Potentiates Netrin Receptor Uncoordinated-5C-induced Signaling That Merges with Amyloid beta Precursor Protein Signaling.
Hashimoto Y.; Toyama Y.; Kusakari S.; Nawa M.; Matsuoka M.;
J. Biol. Chem. 291:12282-12293(2016)
Cited for: INTERACTION WITH DAPK1; CHARACTERIZATION OF VARIANT AD MET-835;
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.