Sequence information
Variant position: 292 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:
GDVEFVCKVYSDAQPHIQWI
K HVEKNGSKYGPDGLPYLKVL
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 GDVEFVCKVYSDAQPHIQWIK HVEKNGSKYGPDGLPYLKVL
Mouse GDVEFVCKVYSDAQPHIQWIK HVEKNGSKNGPDGLPYLKVL
Chicken GDVEFVCKVYSDAQPHIQWIK HVERNGSKYGPDGLPYLQVL
Xenopus laevis GDAEFVCKVYSDAQPHIRWVR YIEKNGSRFGVDGLPYFKVL
Zebrafish QDAKFVCKVYSDAQPHIQWLQ HYTKNGSCCGPDGLPYVRVL
Drosophila GSLVMKCTVYSDLHPTVSWKR VVLKNAS---LDGLKSVEI-
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
297 – 297
N-linked (GlcNAc...) asparagine
Disulfide bond
278 – 342
Alternative sequence
250 – 361
Missing. In isoform 23.
Alternative sequence
255 – 821
Missing. In isoform 14.
Beta strand
287 – 293
Literature citations
A novel mutation (a886g) in exon 5 of FGFR2 in members of a family with Crouzon phenotype and plagiocephaly.
Steinberger D.; Collmann H.; Schmalenberger B.; Mueller U.;
J. Med. Genet. 34:420-422(1997)
Cited for: VARIANT CS GLU-292;
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.