Sequence information
Variant position: 204 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:
VGTNSDQYIWVKRSLNCVLK
C GYDAGLYSRSAKEFTDIWMA
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 VGTNSDQYIWVKRSLNCVLKC GYDAGLYSRSAKEFTDIWMA
Mouse VGSNSDQYIWVKRSLNCVLKC GYDAGLYSRSAKEFTDIWMA
Rat VGTNSDQYIWVKRSLNCVLKC GYDAGLYSRSAKEFTDIWMA
Chicken MGSNSDQYIWVKRNLDCVLKC GYDAGLYSRSAKEFTDIWMA
Xenopus laevis FGPNSDQYTWVKRSMNCVLKC GYDSGLYNRLSKEFTDIWMA
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.
Literature citations
Crystal structure of the Frizzled 4 receptor in a ligand-free state.
Yang S.; Wu Y.; Xu T.H.; de Waal P.W.; He Y.; Pu M.; Chen Y.; DeBruine Z.J.; Zhang B.; Zaidi S.A.; Popov P.; Guo Y.; Han G.W.; Lu Y.; Suino-Powell K.; Dong S.; Harikumar K.G.; Miller L.J.; Katritch V.; Xu H.E.; Shui W.; Stevens R.C.; Melcher K.; Zhao S.; Xu F.;
Nature 560:666-670(2018)
Cited for: X-RAY CRYSTALLOGRAPHY (2.40 ANGSTROMS) OF 178-517; FUNCTION; SUBCELLULAR LOCATION; TRANSMEMBRANE DOMAINS; DISULFIDE BONDS; CHARACTERIZATION OF VARIANTS ARG-181 AND TYR-204; MUTAGENESIS OF SER-233; TYR-250; ARG-253; TYR-265; TYR-269; GLU-341; ASP-371; TYR-378; ASN-381; LEU-399; SER-418; TYR-444; TYR-455; GLU-458; GLU-477; LYS-480; TRP-494 AND TRP-496;
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;
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.