Variant position: 344 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 IEVLYIRNVTFEDAGEYTCL AGNSIGISFHSAWLTVL----PAPG
Mouse IEVLYIRNVTFEDAGEYTCL AGNSIGISFHSAWLTVL----
Chicken IEVLYIRNVTFEDAGEYTCL AGNSIGISFHTAWLTVL----
Xenopus laevis IEVLYVRNVSFEDAGEYTCI AGNSIGISQHSAWLTVH----
Zebrafish IEVLYLPNVTFEDAGEYTCL AGNSIGISYHTAWLTVH----
Drosophila V-VLTLRNVTFDQEGWYTCL ASSGLGRSNSSVYLRVVSPLP
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
256 – 358 Ig-like C2-type 3
331 – 331 N-linked (GlcNAc...) asparagine
250 – 361 Missing. In isoform 17.
255 – 821 Missing. In isoform 8.
314 – 429 Missing. In isoform 9.
341 – 353 TCLAGNSIGISFH -> ICKVSNYIGQANQ. In isoform 3, isoform 4, isoform 11, isoform 12, isoform 13 and isoform 16.
361 – 361 P -> PKQQ. In isoform 3, isoform 4, isoform 11, isoform 12, isoform 13 and isoform 16.
338 – 346
FGFR2 exon IIIa and IIIc mutations in Crouzon, Jackson-Weiss, and Pfeiffer syndromes: evidence for missense changes, insertions, and a deletion due to alternative RNA splicing.
Meyers G.A.; Day D.; Goldberg R.; Daentl D.L.; Przylepa K.A.; Abrams L.J.; Graham J.M. Jr.; Feingold M.; Moeschler J.B.; Rawnsley E.; Scott A.F.; Jabs E.W.;
Am. J. Hum. Genet. 58:491-498(1996)
Cited for: VARIANTS CS GLY-268 INS; PHE-342 AND TYR-342; VARIANTS PS PHE-278; ARG-342; SER-342; PRO-344 AND PHE-359; VARIANT JWS PRO-289;
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.