Variant position: 391 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 821 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 ASPDYLEIAIYCIGVFLIAC MVVTVILCRMKNTTKKPDFSS
Mouse ASPDYLEIAIYCIGVFLIAC MVVTVIFCRMKTTTKKPDFSS
Chicken TSPDYLEIAIYCIGVFLIAC MVLTVILCRMKNTTKKPDFSS
Xenopus laevis PVPYYMEIGIYSTGIFIIFC MVVVCVVCRMRQGAKKKKNFT
Zebrafish YPPDYVEIAIYCIGVFLIAC MVVIVVVCRMRTSAKKPDFSS
Drosophila HPLGFTLAAITIVALFLLGS AFITFMLRRLRR--EKLLKLR
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
22 – 821 Fibroblast growth factor receptor 2
378 – 398 Helical
255 – 821 Missing. In isoform 8.
314 – 429 Missing. In isoform 9.
366 – 821 Missing. In isoform 13.
Bent bone dysplasia-FGFR2 type, a distinct skeletal disorder, has deficient canonical FGF signaling.
Merrill A.E.; Sarukhanov A.; Krejci P.; Idoni B.; Camacho N.; Estrada K.D.; Lyons K.M.; Deixler H.; Robinson H.; Chitayat D.; Curry C.J.; Lachman R.S.; Wilcox W.R.; Krakow D.;
Am. J. Hum. Genet. 90:550-557(2012)
Cited for: VARIANTS BBDS ASP-381 AND ARG-391; CHARACTERIZATION OF VARIANT BBDS ARG-391;
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.