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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P21802: Variant p.Tyr375Cys

Fibroblast growth factor receptor 2
Gene: FGFR2
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Variant information Variant position: help 375 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 Tyrosine (Y) to Cysteine (C) at position 375 (Y375C, p.Tyr375Cys). 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 (Y) to medium size and polar (C) 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 and BSTVS. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 375 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 AWLTVLPAPGREKEITASPD Y LEIAIYCIGVFLIACMVVTV 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                         AWLTVLPAPGREKEI-----TASPDYLEIAIYCIGVFLIACMVVTV

Mouse                         AWLTVLPAPVREKEI-----TASPDYLEIAIYCIGVFLIAC

Chicken                       AWLTVLPAPEKEKEF-----PTSPDYLEIAIYCIGVFLIAC

Xenopus laevis                AWLTVHPAPVNPLED-----NPVPYYMEIGIYSTGIFIIFC

Zebrafish                     AWLTVHPAETNPIET-----DYPPDYVEIAIYCIGVFLIAC

Drosophila                    VYLRVV-SPLPPLEIYALLHAHPLGFTLAAITIVALFLLGS
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
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.
Alternative sequence 366 – 821 Missing. In isoform 13.



Literature citations
Fibroblast growth factor receptor 2 mutations in Beare-Stevenson cutis gyrata syndrome.
Przylepa K.A.; Paznekas W.A.; Zhang M.; Golabi M.; Bias W.; Bamshad M.J.; Carey J.C.; Hall B.D.; Stevenson R.; Orlow S.J.; Cohen M.M. Jr.; Jabs E.W.;
Nat. Genet. 13:492-494(1996)
Cited for: VARIANTS BSTVS CYS-372 AND CYS-375; 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; Mutation in the FGFR2 gene in a Taiwanese patient with Beare-Stevenson cutis gyrata syndrome.
Wang T.-J.; Huang C.-B.; Tsai F.-J.; Wu J.-Y.; Lai R.-B.; Hsiao M.;
Clin. Genet. 61:218-221(2002)
Cited for: VARIANT BSTVS CYS-375;
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.