Variant position: 372 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 FHSAWLTVL----PAPGREKEITA SPDYLEIAIYCIGVFLIACMV
Mouse FHSAWLTVL----PAPVREKEITA SPDYLEIAIYCIGVFLI
Chicken FHTAWLTVL----PAPEKEKEFPT SPDYLEIAIYCIGVFLI
Xenopus laevis QHSAWLTVH----PAPVNPLEDNP VPYYMEIGIYSTGIFII
Zebrafish YHTAWLTVH----PAETNPIETDY PPDYVEIAIYCIGVFLI
Drosophila NSSVYLRVVSPLPPLEIYALLHAH PLGFTLAAITIVALFLL
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 8.
314 – 429 Missing. In isoform 9.
361 – 361 P -> PKQQ. In isoform 3, isoform 4, isoform 11, isoform 12, isoform 13 and isoform 16.
366 – 821 Missing. In isoform 13.
Fibroblast growth factor receptor 2 mutations in Beare-Stevenson cutis gyrata syndrome.
Przylepa K.A.; Paznekas W.A.; Zhang M.; Golabi M.; Bias W.; Bamshad M.J.; Carey J.C.; Hall B.D.; Stevenson R.; Orlow S.J.; Cohen M.M. Jr.; Jabs E.W.;
Nat. Genet. 13:492-494(1996)
Cited for: VARIANTS BSTVS CYS-372 AND CYS-375;
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