Sequence information
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:
IEVLYIRNVTFEDAGEYTCL
A GNSIGISFHSAWLTVLPAPG
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 IEVLYIRNVTFEDAGEYTCLA GNSIGISFHSAWLTVL----PAPG
Mouse IEVLYIRNVTFEDAGEYTCLA GNSIGISFHSAWLTVL----
Chicken IEVLYIRNVTFEDAGEYTCLA GNSIGISFHTAWLTVL----
Xenopus laevis IEVLYVRNVSFEDAGEYTCIA GNSIGISQHSAWLTVH----
Zebrafish IEVLYLPNVTFEDAGEYTCLA GNSIGISYHTAWLTVH----
Drosophila V-VLTLRNVTFDQEGWYTCLA SSGLGRSNSSVYLRVVSPLP
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
Domain
256 – 358
Ig-like C2-type 3
Glycosylation
331 – 331
N-linked (GlcNAc...) asparagine
Alternative sequence
250 – 361
Missing. In isoform 17.
Alternative sequence
255 – 821
Missing. In isoform 8.
Alternative sequence
314 – 429
Missing. In isoform 9.
Alternative sequence
341 – 353
TCLAGNSIGISFH -> ICKVSNYIGQANQ. In isoform 3, isoform 4, isoform 11, isoform 12, isoform 13 and isoform 16.
Alternative sequence
361 – 361
P -> PKQQ. In isoform 3, isoform 4, isoform 11, isoform 12, isoform 13 and isoform 16.
Beta strand
338 – 346
Literature citations
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;
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.