Variant position: 33 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 APGGVGLSLGLLL-QLLLLLG PARGFGDEEERRCDPIRISMC
Mouse APGGVGLRLGLLL-QFLLLLR PTLGFGDEEERRCDPIRIAM
Rat MPGGVRLRLGLLLLQLLLLQR PALGFGDEEERRCDPIRIAM
Chicken -----GRMLALLL---AGLLG GARGFGDEEERRCDAIRIAM
Xenopus laevis -----ARSLTLLYLLCCLVVG LIAGFGEEEERSCDPIRITM
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
1 – 36
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;
Identification of novel FZD4 mutations in Indian patients with familial exudative vitreoretinopathy.
Nallathambi J.; Shukla D.; Rajendran A.; Namperumalsamy P.; Muthulakshmi R.; Sundaresan P.;
Mol. Vis. 12:1086-1092(2006)
Cited for: VARIANTS EVR1 SER-33 AND ARG-204;
Clinical and molecular evaluation of probands and family members with familial exudative vitreoretinopathy.
Boonstra F.N.; van Nouhuys C.E.; Schuil J.; de Wijs I.J.; van der Donk K.P.; Nikopoulos K.; Mukhopadhyay A.; Scheffer H.; Tilanus M.A.D.; Cremers F.P.M.; Hoefsloot L.H.;
Invest. Ophthalmol. Vis. Sci. 50:4379-4385(2009)
Cited for: VARIANTS EVR1 SER-33; LYS-223 AND PRO-445; 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.