Expasy logo

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P21802: Variant p.Val359Phe

Fibroblast growth factor receptor 2
Gene: FGFR2
Variant information Variant position: help 359 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help LP/P [Disclaimer] The variants are classified into three categories: LP/P, LB/B and US.
  • LP/P: likely pathogenic or pathogenic.
  • LB/B: likely benign or benign.
  • US: uncertain significance

Residue change: help From Valine (V) to Phenylalanine (F) at position 359 (V359F, p.Val359Phe). Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.
Physico-chemical properties: help Change from medium size and hydrophobic (V) to large size and aromatic (F) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -1 The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:
  • Lowest score: -4 (low probability of substitution).
  • Highest score: 11 (high probability of substitution).
More information can be found on the following page

Variant description: help In CS and PS. Any additional useful information about the variant.

Sequence information Variant position: help 359 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 821 The length of the canonical sequence.
Location on the sequence: help EYTCLAGNSIGISFHSAWLT V LPAPGREKEITASPDYLEIA 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: help The multiple alignment of the region surrounding the variant against various orthologous sequences.






Sequence annotation in neighborhood: help 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.
Chain 22 – 821 Fibroblast growth factor receptor 2
Topological domain 22 – 377 Extracellular
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 361 – 361 P -> PKQQ. In isoform 3, isoform 4, isoform 11, isoform 12, isoform 13 and isoform 16.
Beta strand 349 – 360

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; Clustering of FGFR2 gene mutations in patients with Pfeiffer and Crouzon syndromes (FGFR2-associated craniosynostoses).
Kress W.; Collmann H.; Buesse M.; Halliger-Keller B.; Mueller C.R.;
Cytogenet. Cell Genet. 91:134-137(2000)
Cited for: VARIANTS CS/PS ARG-342 AND TYR-342; VARIANTS CS LEU-263; VAL-276; PHE-278; TYR-278; SER-288; PRO-289; PRO-341; TRP-342; CYS-354; TYR-354 AND PHE-359; VARIANT PS SER-342;
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.