Variant position: 1415 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 1613 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 QRMLCPRMKGDGETMTNDYV VHGPASVPLGYVPHPSSLSGS
Mouse QRMLCPRMKGDGETMTNDYV VHSPASVPLGYVPHPSSLSGS
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
20 – 1613 Low-density lipoprotein receptor-related protein 6
1394 – 1613 Cytoplasmic
1420 – 1420 Phosphoserine; by CK1
1430 – 1430 Phosphoserine; by CK1
1399 – 1399 S-palmitoyl cysteine
1403 – 1403 Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)
1399 – 1399 C -> A. Some reduction of palmitoylation, and little change in plasma membrane location in the presence of MESD nor in Wnt-signaling activity. Completely abolishes palmitoylation, no plasma membrane location, greatly reduced Wnt-signaling activity but no effect on ubiquitination; when associated with A-1394. Exhibits full Wnt-signaling activity and no change in plasma membrane location in the in presence of MESD; when associated with A-1394 and R-1403.
1403 – 1403 K -> R. Abolishes ubiquitination, no change in plasma membrane location in the presence of MESD but greatly reduced Wnt-signaling activity. Exhibits full Wnt-signaling activity and no change in plasma membrane location; when associated with A-1394 and A-1399.
1420 – 1420 S -> A. Enhanced AXIN1 binding and increased beta-catenin activity by 2.2-fold. Further enhanced AXIN1 binding and increases beta-catenin activity by 3.3-fold; when associated with A-1430.
1430 – 1430 S -> A. Enhanced AXIN1 binding. Further enhanced AXIN1 binding and increases beta-catenin activity by 3.3-fold; when associated with A-1420.
De Novo Mutation in Genes Regulating Neural Stem Cell Fate in Human Congenital Hydrocephalus.
Furey C.G.; Choi J.; Jin S.C.; Zeng X.; Timberlake A.T.; Nelson-Williams C.; Mansuri M.S.; Lu Q.; Duran D.; Panchagnula S.; Allocco A.; Karimy J.K.; Khanna A.; Gaillard J.R.; DeSpenza T.; Antwi P.; Loring E.; Butler W.E.; Smith E.R.; Warf B.C.; Strahle J.M.; Limbrick D.D.; Storm P.B.; Heuer G.; Jackson E.M.; Iskandar B.J.; Johnston J.M.; Tikhonova I.; Castaldi C.; Lopez-Giraldez F.; Bjornson R.D.; Knight J.R.; Bilguvar K.; Mane S.; Alper S.L.; Haider S.; Guclu B.; Bayri Y.; Sahin Y.; Apuzzo M.L.J.; Duncan C.C.; DiLuna M.L.; Guenel M.; Lifton R.P.; Kahle K.T.;
Cited for: VARIANT PHE-1415;
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