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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P21802: Variant p.Asp321Ala

Fibroblast growth factor receptor 2
Gene: FGFR2
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Variant information Variant position: help 321 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 Aspartate (D) to Alanine (A) at position 321 (D321A, p.Asp321Ala). 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 acidic (D) to small size and hydrophobic (A) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -2 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 PS. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 321 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 YGPDGLPYLKVLKAAGVNTT D KEIEVLYIRNVTFEDAGEYT 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. 
Human                         YGPDGLPYLKVLKAAGVNTTDKEIEVLYIRNVTFEDAGEYT

Mouse                         NGPDGLPYLKVLKAAGVNTTDKEIEVLYIRNVTFEDAGEYT

Chicken                       YGPDGLPYLQVLKAAGVNTTDKEIEVLYIRNVTFEDAGEYT

Xenopus laevis                FGVDGLPYFKVLKAAGVNVTDEEIEVLYVRNVSFEDAGEYT

Zebrafish                     CGPDGLPYVRVLKTAGVNTTDKEIEVLYLPNVTFEDAGEYT

Drosophila                    --LDGLKSVEI-QNLNFTVTNDSV-VLTLRNVTFDQEGWYT
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.
TypePositionsDescription
Chain 22 – 821 Fibroblast growth factor receptor 2
Topological domain 22 – 377 Extracellular
Domain 256 – 358 Ig-like C2-type 3
Glycosylation 318 – 318 N-linked (GlcNAc...) asparagine
Glycosylation 331 – 331 N-linked (GlcNAc...) asparagine
Disulfide bond 278 – 342
Alternative sequence 250 – 361 Missing. In isoform 17.
Alternative sequence 255 – 821 Missing. In isoform 8.
Alternative sequence 313 – 313 K -> KVTK. In isoform 10.
Alternative sequence 314 – 429 Missing. In isoform 9.
Alternative sequence 314 – 330 AAGVNTTDKEIEVLYIR -> HSGINSSNAEVLALF. In isoform 3, isoform 4, isoform 11, isoform 12, isoform 13 and isoform 16.
Helix 321 – 323



Literature citations
FGFR2 mutations in Pfeiffer syndrome.
Lajeunie E.; Wei M.H.; Bonaventure J.; Munnich A.; le Merrer M.; Renier D.;
Nat. Genet. 9:108-108(1995)
Cited for: VARIANT PS ALA-321;
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.