Sequence information
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:
FHSAWLTVLPAPGREKEITA
S PDYLEIAIYCIGVFLIACMV
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----PAPGREKEITAS PDYLEIAIYCIGVFLIACMV
Mouse FHSAWLTVL----PAPVREKEITAS PDYLEIAIYCIGVFLI
Chicken FHTAWLTVL----PAPEKEKEFPTS PDYLEIAIYCIGVFLI
Xenopus laevis QHSAWLTVH----PAPVNPLEDNPV PYYMEIGIYSTGIFII
Zebrafish YHTAWLTVH----PAETNPIETDYP PDYVEIAIYCIGVFLI
Drosophila NSSVYLRVVSPLPPLEIYALLHAHP LGFTLAAITIVALFLL
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
Topological domain
22 – 377
Extracellular
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
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;
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.