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UniProtKB/Swiss-Prot P11362: Variant p.Asp768Tyr

Fibroblast growth factor receptor 1
Gene: FGFR1
Variant information

Variant position:  768
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 Aspartate (D) to Tyrosine (Y) at position 768 (D768Y, p.Asp768Tyr).
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 medium size and acidic (D) to large size and aromatic (Y)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  -3
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 HH2; the patient also carries a rare variant in FGF8.
Any additional useful information about the variant.

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



Sequence information

Variant position:  768
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  822
The length of the canonical sequence.

Location on the sequence:   KQLVEDLDRIVALTSNQEYL  D LSMPLDQYSPSFPDTRSSTC
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.

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 – 822 Fibroblast growth factor receptor 1
Topological domain 398 – 822 Cytoplasmic
Site 766 – 766 Mediates interaction with PLCG1 and SHB
Modified residue 766 – 766 Phosphotyrosine; by autocatalysis
Alternative sequence 62 – 822 Missing. In isoform 3.
Alternative sequence 151 – 822 Missing. In isoform 16.
Alternative sequence 392 – 822 Missing. In isoform 17 and isoform 18.
Alternative sequence 663 – 822 Missing. In isoform 2, isoform 5, isoform 7, isoform 9, isoform 11 and isoform 13.
Mutagenesis 755 – 755 D -> V. Abolishes interaction with PLCG1.
Mutagenesis 766 – 766 Y -> F. Abolishes interaction with PLCG1 and SHB. Decreases phosphorylation of FRS2, activation of RAS and MAP kinase signaling and stimulation of cell proliferation.


Literature citations

Mutations in FGF17, IL17RD, DUSP6, SPRY4, and FLRT3 are identified in individuals with congenital hypogonadotropic hypogonadism.
Miraoui H.; Dwyer A.A.; Sykiotis G.P.; Plummer L.; Chung W.; Feng B.; Beenken A.; Clarke J.; Pers T.H.; Dworzynski P.; Keefe K.; Niedziela M.; Raivio T.; Crowley W.F. Jr.; Seminara S.B.; Quinton R.; Hughes V.A.; Kumanov P.; Young J.; Yialamas M.A.; Hall J.E.; Van Vliet G.; Chanoine J.P.; Rubenstein J.; Mohammadi M.; Tsai P.S.; Sidis Y.; Lage K.; Pitteloud N.;
Am. J. Hum. Genet. 92:725-743(2013)
Cited for: VARIANTS HH2 SER-117; ASP-228; THR-239; GLN-250; SER-342; ARG-348; LEU-470; THR-483; ASN-618; LYS-670; GLY-692; HIS-722; LYS-724 AND TYR-768;

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.