UniProtKB/Swiss-Prot P21802: Variant p.Ala362Ser

Fibroblast growth factor receptor 2
Gene: FGFR2
Chromosomal location: 10q26
Variant information

Variant position:  362
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  Disease [Disclaimer]
The variants are classified into three categories: Disease, Polymorphism and Unclassified.
  • Disease: Variants have been found in patients and disease-association is reported in literature. However, this classification is not a definitive assessment of variant pathogenicity.
  • Polymorphism: No disease-association has been reported.
  • Unclassified: Variants have been found in patients but disease-association remains unclear.

Residue change:  From Alanine (A) to Serine (S) at position 362 (A362S, p.Ala362Ser).
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 hydrophobic (A) to small size and polar (S)
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

Involvement in disease:  Crouzon syndrome (CS) [MIM:123500]: An autosomal dominant syndrome characterized by craniosynostosis, hypertelorism, exophthalmos and external strabismus, parrot-beaked nose, short upper lip, hypoplastic maxilla, and a relative mandibular prognathism. Note=The disease is caused by mutations affecting the gene represented in this entry.
The name and a short description of the disease associated with the variant. For more information about the disease, the user can refer to OMIM, following the link provided after the disease acronym.

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



Sequence information

Variant position:  362
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:   CLAGNSIGISFHSAWLTVLP  A PGREKEITASPDYLEIAIYC
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                         CLAGNSIGISFHSAWLTVL----PAPGREKEITASPDYLEIAIYC

Mouse                         CLAGNSIGISFHSAWLTVL----PAPVREKEITASPDYLEI

Chicken                       CLAGNSIGISFHTAWLTVL----PAPEKEKEFPTSPDYLEI

Xenopus laevis                CIAGNSIGISQHSAWLTVH----PAPVNPLEDNPVPYYMEI

Zebrafish                     CLAGNSIGISYHTAWLTVH----PAETNPIETDYPPDYVEI

Drosophila                    CLASSGLGRSNSSVYLRVVSPLPPLEIYALLHAHPLGFTLA

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.

TypePositionsDescription
Chain 22 – 821 Fibroblast growth factor receptor 2
Topological domain 22 – 377 Extracellular
Alternative sequence 255 – 821 Missing. In isoform 14.
Alternative sequence 314 – 429 Missing. In isoform 15.
Alternative sequence 361 – 361 P -> PKQQ. In isoform 3, isoform 4, isoform 7, isoform 9, isoform 10, isoform 11, isoform 12, isoform 13, isoform 17, isoform 18, isoform 19 and isoform 22.
Alternative sequence 362 – 365 APGR -> GRRC. In isoform 19.


Literature citations

A novel FGFR2 gene mutation in Crouzon syndrome associated with apparent nonpenetrance.
Everett E.T.; Britto D.A.; Ward R.E.; Hartsfield J.K. Jr.;
Cleft Palate Craniofac. J. 36:533-541(1999)
Cited for: VARIANT CS SER-362;

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.