Variant position: 181 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 GPGDEEVPLPHKTPIQPGEE CHSVGTNSDQYIWVKRSLNCV
Mouse GPGDEEVPLPHKTPIQPGEE CHSVGSNSDQYIWVKRSLNCV
Rat GPGDEEVPLPHKTPIQPGEE CHSVGTNSDQYIWVKRSLNCV
Chicken GPGDEEVPLHSKTSLQPGEE CHSMGSNSDQYIWVKRNLDCV
Xenopus laevis GPGDDEVPAHSKTPVLPGED CNSFGPNSDQYTWVKRSMNCV
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 – 222 Extracellular
Autosomal dominant familial exudative vitreoretinopathy in two Japanese families with FZD4 mutations (H69Y and C181R).
Omoto S.; Hayashi T.; Kitahara K.; Takeuchi T.; Ueoka Y.;
Ophthalmic Genet. 25:81-90(2004)
Cited for: VARIANTS EVR1 TYR-69 AND ARG-181;
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