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UniProtKB/Swiss-Prot P21802: Variant p.Ser351Cys

Fibroblast growth factor receptor 2
Gene: FGFR2
Variant information

Variant position:  351
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  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:  From Serine (S) to Cysteine (C) at position 351 (S351C, p.Ser351Cys).
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:  Change from small size and polar (S) to medium size and polar (C)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  -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:  In CS, PS and ABS2.
Any additional useful information about the variant.

Other resources:  
Links to websites of interest for the variant.

Sequence information

Variant position:  351
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  821
The length of the canonical 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.







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.

Chain 22 – 821 Fibroblast growth factor receptor 2
Topological domain 22 – 377 Extracellular
Domain 256 – 358 Ig-like C2-type 3
Glycosylation 331 – 331 N-linked (GlcNAc...) asparagine
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 341 – 353 TCLAGNSIGISFH -> ICKVSNYIGQANQ. In isoform 3, isoform 4, isoform 11, isoform 12, isoform 13 and isoform 16.
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

Spectrum of craniosynostosis phenotypes associated with novel mutations at the fibroblast growth factor receptor 2 locus.
Pulleyn L.J.; Reardon W.; Wilkes D.; Rutland P.; Jones B.M.; Hayward R.; Hall C.M.; Brueton L.; Chun N.; Lammer E.; Malcolm S.; Winter R.M.;
Eur. J. Hum. Genet. 4:283-291(1996)
Cited for: VARIANTS CS CYS-105; GLU-338; CYS-351 AND ARG-384;

Pfeiffer's syndrome resulting from an S351C mutation in the fibroblast growth factor receptor-2 gene.
Mathijssen I.M.; Vaandrager J.M.; Hoogeboom A.J.; Hesseling-Janssen A.L.W.; van den Ouweland A.M.W.;
J. Craniofac. Surg. 9:207-209(1998)
Cited for: VARIANT PS CYS-351;

Evidence for digenic inheritance in some cases of Antley-Bixler syndrome?
Reardon W.; Smith A.; Honour J.W.; Hindmarsh P.; Das D.; Rumsby G.; Nelson I.; Malcolm S.; Ades L.; Sillence D.; Kumar D.; DeLozier-Blanchet C.; McKee S.; Kelly T.; McKeehan W.L.; Baraitser M.; Winter R.M.;
J. Med. Genet. 37:26-32(2000)
Cited for: VARIANTS ABS2 ARG-342; SER-342 AND CYS-351;

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.