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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P21802: Variant p.Phe276Val

Fibroblast growth factor receptor 2
Gene: FGFR2
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Variant information Variant position: help 276 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 Phenylalanine (F) to Valine (V) at position 276 (F276V, p.Phe276Val). 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 large size and aromatic (F) to medium size and hydrophobic (V) 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. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 276 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 PILQAGLPANASTVVGGDVE F VCKVYSDAQPHIQWIKHVEK 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                         PILQAGLPANASTVVGGDVEFVCKVYSDAQPHIQWIKHVEK

Mouse                         PILQAGLPANASTVVGGDVEFVCKVYSDAQPHIQWIKHVEK

Chicken                       PILQAGLPANASAVVGGDVEFVCKVYSDAQPHIQWIKHVER

Xenopus laevis                PILQAGLPANTTAVVGGDAEFVCKVYSDAQPHIRWVRYIEK

Zebrafish                     PILQAGLPANVTVQVGQDAKFVCKVYSDAQPHIQWLQHYTK

Drosophila                    PIIV--VPQNQTVKVNGSLVMKCTVYSDLHPTVSWKRVVLK
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 265 – 265 N-linked (GlcNAc...) asparagine
Alternative sequence 250 – 361 Missing. In isoform 17.
Alternative sequence 255 – 821 Missing. In isoform 8.
Mutagenesis 265 – 265 N -> Q. Reduced N-glycosylation. Reduced expression at the cell surface.
Beta strand 274 – 277



Literature citations
The mutations in FGFR2-associated craniosynostoses are clustered in five structural elements of immunoglobulin-like domain III of the receptor.
Steinberger D.; Vriend G.; Mulliken J.B.; Mueller U.;
Hum. Genet. 102:145-150(1998)
Cited for: VARIANTS CS VAL-276 AND CYS-301; VARIANT CRANIOSYNOSTOSIS SER-314; 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; Genomic screening of fibroblast growth-factor receptor 2 reveals a wide spectrum of mutations in patients with syndromic craniosynostosis.
Kan S.-H.; Elanko N.; Johnson D.; Cornejo-Roldan L.R.; Cook J.; Reich E.W.; Tomkins S.; Verloes A.; Twigg S.R.F.; Rannan-Eliya S.; McDonald-McGinn D.M.; Zackai E.H.; Wall S.A.; Muenke M.; Wilkie A.O.M.;
Am. J. Hum. Genet. 70:472-486(2002)
Cited for: VARIANTS CS CYS-105; PRO-267; VAL-276; CYS-281; PRO-289; ARG-338; HIS-340; PHE-342; TRP-342; CYS-347; CYS-354; HIS-549 AND GLY-678; VARIANTS PS PHE-172; 252-SER-PRO-253 DELINS PHE-SER; CYS-290; CYS-340; PRO-341; ARG-342; SER-342; CYS-375; GLY-565; ARG-641 AND GLU-663; VARIANTS APRS TRP-252 AND ARG-253; VARIANTS CS/PS PHE-278 AND TYR-342; VARIANT CRANIOSYNOSTOSIS ASN-659; VARIANTS THR-186 AND SER-315;
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.