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:
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 YSDAQPHIQWIKHVEKNGSK YGPDGLPYLKVLKAAGVNTTD
Mouse YSDAQPHIQWIKHVEKNGSK NGPDGLPYLKVLKAAGVNTTD
Chicken YSDAQPHIQWIKHVERNGSK YGPDGLPYLQVLKAAGVNTTD
Xenopus laevis YSDAQPHIRWVRYIEKNGSR FGVDGLPYFKVLKAAGVNVTD
Zebrafish YSDAQPHIQWLQHYTKNGSC CGPDGLPYVRVLKTAGVNTTD
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
22 – 821 Fibroblast growth factor receptor 2
22 – 377 Extracellular
256 – 358 Ig-like C2-type 3
297 – 297 N-linked (GlcNAc...) asparagine
318 – 318 N-linked (GlcNAc...) asparagine
278 – 342
250 – 361 Missing. In isoform 17.
255 – 821 Missing. In isoform 8.
313 – 313 K -> KVTK. In isoform 10.
299 – 301
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;
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.