bhf-ucl qin-2008a-1 Moderate reduction of Norrin signaling activity associated with the causative missense mutations identified in patients with familial exudative vitreoretinopathy. in vitro In vitro imaging technique imaging technique microscopy predetermined predetermined participant predetermined Qin M., Kondo H., Tahira T., Hayashi K. Cardiac - Interactions involving cardiac related proteins minghui@gen.kyushu-u.ac.jp Hum. Genet. (0340-6717) 2008 imex curation Only protein-protein interactions fzd4_human Frizzled-4 FZD4 FzE4 protein protein human Homo sapiens Human MAWRGAGPSVPGAPGGVGLSLGLLLQLLLLLGPARGFGDEEERRCDPIRISMCQNLGYNVTKMPNLVGHELQTDAELQLTTFTPLIQYGCSSQLQFFLCSVYVPMCTEKINIPIGPCGGMCLSVKRRCEPVLKEFGFAWPESLNCSKFPPQNDHNHMCMEGPGDEEVPLPHKTPIQPGEECHSVGTNSDQYIWVKRSLNCVLKCGYDAGLYSRSAKEFTDIWMAVWASLCFISTAFTVLTFLIDSSRFSYPERPIIFLSMCYNIYSIAYIVRLTVGRERISCDFEEAAEPVLIQEGLKNTGCAIIFLLMYFFGMASSIWWVILTLTWFLAAGLKWGHEAIEMHSSYFHIAAWAIPAVKTIVILIMRLVDADELTGLCYVGNQNLDALTGFVVAPLFTYLVIGTLFIAAGLVALFKIRSNLQKDGTKTDKLERLMVKIGVFSVLYTVPATCVIACYFYEISNWALFRYSADDSNMAVEMLKIFMSLLVGITSGMWIWSAKTLHTWQKCSNRLVNSGKVKREKRGNGWVKPGKGSETVV ndp_human Norrin NDP EVR2 Norrie disease protein X-linked exudative vitreoretinopathy 2 protein protein protein human Homo sapiens Human MRKHVLAASFSMLSLLVIMGDTDSKTDSSFIMDSDPRRCMRHHYVDSISHPLYKCSSKMVLLARCEGHCSQASRSEPLVSFSTVLKQPFRSSCHCCRPQTSKLKALRLRCSGGMRLTATYRYILSCHCEECNS fzd4-ndp 1448651 n/a 1448652 inference inference modeled modelled unspecified role unspecified role neutral component neutral component nucl transfection nucleic acid transfection nucl transfection Q9ULV1:p.Met105Val mutation decreasing mutation decreasing interaction hotspot hotspot mutation decreasing deletion analysis deletion analysis certain certain sequence position certain certain certain sequence position certain false required to bind region required to bind necessary binding region required to bind deletion analysis deletion analysis certain certain sequence position certain certain certain sequence position certain false W319X mutation used in this experiment results in a short protein 1-318 aa long which does not bind. This mutation corresponds with a pathologic clinical single nucleotide polymorphism (SNP) mutation rs80358291 chlae-cos_1 Chlorocebus aethiops COS-1 cells Grivet cos_1 CV-1 Simian cells (cercopithecus aethiops) transformed by SV40 n/a 1448653 tag enzyme assay tag visualisation by enzyme assay tag enzyme assay unspecified role unspecified role neutral component neutral component protein delivery protein delivery myc myc tag myc tag EUKLISEED epitope tag EUKLISEED epitope tag undetermined undetermined sequence position undetermined undetermined undetermined sequence position undetermined false ap fusion protein fusion protein undetermined undetermined sequence position undetermined undetermined undetermined sequence position undetermined false Q00604:p.Lys54Asp mutation decreasing mutation decreasing interaction hotspot hotspot mutation decreasing certain certain sequence position certain certain certain sequence position certain false Q00604:p.Arg115Leu mutation decreasing mutation decreasing interaction hotspot hotspot mutation decreasing deletion analysis deletion analysis certain certain sequence position certain certain certain sequence position certain false physical association physical association false false false Fig. 2A