Variant position: 370 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 AAWAIPAVKTIVILIMRLVD ADELTGLCYVGNQNLDALTGF
Mouse AAWAIPAVKTIVILIMRLVD ADELTGLCYVGNQNLDALTGF
Rat AAWAIPAVKTIVILIMRLVD ADELTGLCYVGNQSLDALTGF
Chicken AAWAIPAVKTIVILIMRLVD ADELTGLCYVGNQNLDALTGF
Xenopus laevis AAWAIPAVKTIVILIMRLVD ADELTGLCYVGNQNIDALTGF
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
366 – 383 Extracellular
302 – 377
371 – 371 D -> A. No effect on signaling activity.
378 – 378 Y -> A. Increased signaling activity.
381 – 381 N -> A. Slight increase in signaling activity.
368 – 370
Severe retinopathy of prematurity associated with FZD4 mutations.
Ells A.; Guernsey D.L.; Wallace K.; Zheng B.; Vincer M.; Allen A.; Ingram A.; DaSilva O.; Siebert L.; Sheidow T.; Beis J.; Robitaille J.M.;
Ophthalmic Genet. 31:37-43(2010)
Cited for: VARIANTS RETINOPATHY OF PREMATURITY ASN-203 AND GLY-370;
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.