Variant position: 40 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 537 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 SLGLLL-QLLLLLGPARGFGD EEERRCDPIRISMCQNLGYNV
Mouse RLGLLL-QFLLLLRPTLGFGD EEERRCDPIRIAMCQNLGYN
Rat RLGLLLLQLLLLQRPALGFGD EEERRCDPIRIAMCQNLGYN
Chicken MLALLL---AGLLGGARGFGD EEERRCDAIRIAMCQNLGYN
Xenopus laevis SLTLLYLLCCLVVGLIAGFGE EEERSCDPIRITMCQNLGYN
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
37 – 537 Frizzled-4
37 – 212 Extracellular
40 – 161 FZ
59 – 59 N-linked (GlcNAc...) asparagine
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 EVR1 GLN-40; TYR-204 AND ARG-525;
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