Variant position: 256 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 FTVLTFLIDSSRFSYPERPI IFLSMCYNIYSIAYIVRLTVG
Mouse FTVLTFLIDSSRFSYPERPI IFLSMCYNIYSIAYIVRLTVG
Rat FTVLTFLIDSSRFSYPERPI IFLSMCYNIYSIAYIVRLTVG
Chicken FTVLTFLIDSSRFSYPERPI IFLSMCYNIYSIAYIVRLTVG
Xenopus laevis FTVLTFLIDSSRFCYPERPI IFLSMCYNIYSIAYIVRLTVG
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
250 – 275 Helical; Name=2
204 – 282
250 – 250 Y -> F. Reduced signaling activity in presence of NDP/norrin.
250 – 250 Y -> F. Reduced signaling activity.
253 – 253 R -> C. Reduced signaling activity in presence of NDP/norrin.
265 – 265 Y -> A. Slight increase in signaling activity.
269 – 269 Y -> A. Increased signaling activity.
253 – 275
Genetic variants of frizzled-4 gene in familial exudative vitreoretinopathy and advanced retinopathy of prematurity.
MacDonald M.L.; Goldberg Y.P.; Macfarlane J.; Samuels M.E.; Trese M.T.; Shastry B.S.;
Clin. Genet. 67:363-366(2005)
Cited for: VARIANTS EVR1 SER-33 AND VAL-256; VARIANT SER-168;
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.