Variant position: 331 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 VLKAAGVNTTDKEIEVLYIR NVTFEDAGEYTCLAGNSIGIS
Mouse VLKAAGVNTTDKEIEVLYIR NVTFEDAGEYTCLAGNSIGIS
Chicken VLKAAGVNTTDKEIEVLYIR NVTFEDAGEYTCLAGNSIGIS
Xenopus laevis VLKAAGVNVTDEEIEVLYVR NVSFEDAGEYTCIAGNSIGIS
Zebrafish VLKTAGVNTTDKEIEVLYLP NVTFEDAGEYTCLAGNSIGIS
Drosophila I-QNLNFTVTNDSV-VLTLR NVTFDQEGWYTCLASSGLGRS
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
318 – 318 N-linked (GlcNAc...) asparagine
331 – 331 N-linked (GlcNAc...) asparagine
278 – 342
250 – 361 Missing. In isoform 23.
255 – 821 Missing. In isoform 14.
313 – 313 K -> KVTK. In isoform 16.
314 – 429 Missing. In isoform 15.
Crouzon syndrome: previously unrecognized deletion, duplication, and point mutation within FGFR2 gene.
Steinberger D.; Mulliken J.B.; Mueller U.;
Hum. Mutat. 8:386-390(1996)
Cited for: VARIANTS CS ILE-331; ASN-ALA-337 INS AND 356-TRP--THR-358 DEL;
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.