Sequence information
Variant position: 301 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:
YSDAQPHIQWIKHVEKNGSK
Y GPDGLPYLKVLKAAGVNTTD
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 YSDAQPHIQWIKHVEKNGSKY GPDGLPYLKVLKAAGVNTTD
Mouse YSDAQPHIQWIKHVEKNGSKN GPDGLPYLKVLKAAGVNTTD
Chicken YSDAQPHIQWIKHVERNGSKY GPDGLPYLQVLKAAGVNTTD
Xenopus laevis YSDAQPHIRWVRYIEKNGSRF GVDGLPYFKVLKAAGVNVTD
Zebrafish YSDAQPHIQWLQHYTKNGSCC GPDGLPYVRVLKTAGVNTTD
Drosophila YSDLHPTVSWKRVVLKNAS-- -LDGLKSVEI-QNLNFTVTN
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
Glycosylation
318 – 318
N-linked (GlcNAc...) asparagine
Disulfide bond
278 – 342
Alternative sequence
250 – 361
Missing. In isoform 17.
Alternative sequence
255 – 821
Missing. In isoform 8.
Alternative sequence
313 – 313
K -> KVTK. In isoform 10.
Beta strand
299 – 301
Literature citations
The mutations in FGFR2-associated craniosynostoses are clustered in five structural elements of immunoglobulin-like domain III of the receptor.
Steinberger D.; Vriend G.; Mulliken J.B.; Mueller U.;
Hum. Genet. 102:145-150(1998)
Cited for: VARIANTS CS VAL-276 AND CYS-301; VARIANT CRANIOSYNOSTOSIS SER-314;
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.