Sequence information
Variant position: 441 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 1615 The length of the canonical sequence.
Location on the sequence:
IAVDWVARNLYWTDTGTDRI
E VTRLNGTSRKILVSEDLDEP
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 IAVDWVARNLYWTDTGTDRIE VTRLNGTSRKILVSEDLDEP
Mouse IAVDWVARNLYWTDTGTDRIE VTRLNGTSRKILVSEDLDEP
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
32 – 1615
Low-density lipoprotein receptor-related protein 5
Topological domain
32 – 1384
Extracellular
Repeat
428 – 470
LDL-receptor class B 7
Region
341 – 602
Beta-propeller 2
Glycosylation
446 – 446
N-linked (GlcNAc...) asparagine
Literature citations
Overview of the mutation spectrum in familial exudative vitreoretinopathy and Norrie disease with identification of 21 novel variants in FZD4, LRP5, and NDP.
Nikopoulos K.; Venselaar H.; Collin R.W.J.; Riveiro-Alvarez R.; Boonstra F.N.; Hooymans J.M.; Mukhopadhyay A.; Shears D.; van Bers M.; de Wijs I.J.; van Essen A.J.; Sijmons R.H.; Tilanus M.A.D.; van Nouhuys C.E.; Ayuso C.; Hoefsloot L.H.; Cremers F.P.M.;
Hum. Mutat. 31:656-666(2010)
Cited for: VARIANTS EVR4 LYS-441 AND PHE-1253;
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.