Variant position: 362 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 CLAGNSIGISFHSAWLTVL----P APGREKEITASPDYLEIAIYC
Mouse CLAGNSIGISFHSAWLTVL----P APVREKEITASPDYLEI
Chicken CLAGNSIGISFHTAWLTVL----P APEKEKEFPTSPDYLEI
Xenopus laevis CIAGNSIGISQHSAWLTVH----P APVNPLEDNPVPYYMEI
Zebrafish CLAGNSIGISYHTAWLTVH----P AETNPIETDYPPDYVEI
Drosophila CLASSGLGRSNSSVYLRVVSPLPP LEIYALLHAHPLGFTLA
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
22 – 377 Extracellular
255 – 821 Missing. In isoform 14.
314 – 429 Missing. In isoform 15.
361 – 361 P -> PKQQ. In isoform 3, isoform 4, isoform 7, isoform 9, isoform 10, isoform 11, isoform 12, isoform 13, isoform 17, isoform 18, isoform 19 and isoform 22.
362 – 365 APGR -> GRRC. In isoform 19.
A novel FGFR2 gene mutation in Crouzon syndrome associated with apparent nonpenetrance.
Everett E.T.; Britto D.A.; Ward R.E.; Hartsfield J.K. Jr.;
Cleft Palate Craniofac. J. 36:533-541(1999)
Cited for: VARIANT CS SER-362;
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