Sequence information
Variant position: 381 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:
PAPGREKEITASPDYLEIAI
Y CIGVFLIACMVVTVILCRMK
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 PAPGREKEITASPDYLEIAIY CIGVFLIACMVVTVILCRMK
Mouse PAPVREKEITASPDYLEIAIY CIGVFLIACMVVTVIFCRMK
Chicken PAPEKEKEFPTSPDYLEIAIY CIGVFLIACMVLTVILCRMK
Xenopus laevis PAPVNPLEDNPVPYYMEIGIY STGIFIIFCMVVVCVVCRMR
Zebrafish PAETNPIETDYPPDYVEIAIY CIGVFLIACMVVIVVVCRMR
Drosophila PLEIYALLHAHPLGFTLAAIT IVALFLLGSAFITFMLRRLR
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
Chain
22 – 821
Fibroblast growth factor receptor 2
Transmembrane
378 – 398
Helical
Alternative sequence
255 – 821
Missing. In isoform 8.
Alternative sequence
314 – 429
Missing. In isoform 9.
Alternative sequence
361 – 361
P -> PKQQ. In isoform 3, isoform 4, isoform 11, isoform 12, isoform 13 and isoform 16.
Alternative sequence
366 – 821
Missing. In isoform 13.
Literature citations
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;
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.