Variant position: 105 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 LIQYGCSSQLQFFLCSVYVP MCTEKINIPIGPCGGMCLSVK
Mouse LIQYGCSSQLQFFLCSVYVP MCTEKINIPIGPCGGMCLSVK
Rat LIQYGCSSQLQFFLCSVYVP MCTEKINIPIGPCGGMCLSVK
Chicken LIQYGCSSQLQFFLCSVYVP MCTEKINIPIGPCGGMCLSVK
Xenopus laevis LIQYGCSSQLQFFLCSVYVP MCTEKINIPIGPCGGMCLSVK
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.
Frizzled 4 gene (FZD4) mutations in patients with familial exudative vitreoretinopathy with variable expressivity.
Kondo H.; Hayashi H.; Oshima K.; Tahira T.; Hayashi K.;
Br. J. Ophthalmol. 87:1291-1295(2003)
Cited for: VARIANTS EVR1 TYR-69; VAL-105; GLN-417 AND ASP-488;
Vascular development in the retina and inner ear: control by Norrin and Frizzled-4, a high-affinity ligand-receptor pair.
Xu Q.; Wang Y.; Dabdoub A.; Smallwood P.M.; Williams J.; Woods C.; Kelley M.W.; Jiang L.; Tasman W.; Zhang K.; Nathans J.;
Cited for: VARIANTS EVR1 VAL-105 AND VAL-157; CHARACTERIZATION OF VARIANTS EVR1 VAL-105; VAL-157 AND 493-MET-TRP-494 DEL;
Complexity of the genotype-phenotype correlation in familial exudative vitreoretinopathy with mutations in the LRP5 and/or FZD4 genes.
Qin M.; Hayashi H.; Oshima K.; Tahira T.; Hayashi K.; Kondo H.;
Hum. Mutat. 26:104-112(2005)
Cited for: VARIANTS EVR1 TYR-69; VAL-105; CYS-335; VAL-342; GLN-417 AND ASP-488;
Moderate reduction of Norrin signaling activity associated with the causative missense mutations identified in patients with familial exudative vitreoretinopathy.
Qin M.; Kondo H.; Tahira T.; Hayashi K.;
Hum. Genet. 122:615-623(2008)
Cited for: CHARACTERIZATION OF VARIANTS EVR1 VAL-105 AND GLN-417; CHARACTERIZATION OF VARIANT TYR-69;
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.