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UniProtKB/Swiss-Prot P11362: Variant p.Tyr99Cys

Fibroblast growth factor receptor 1
Gene: FGFR1
Variant information

Variant position:  99
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 Tyrosine (Y) to Cysteine (C) at position 99 (Y99C, p.Tyr99Cys).
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 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:  -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:  In HH2; impairs the tertiary folding resulting in incomplete glycosylation and reduced cell surface expression.
Any additional useful information about the variant.

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

Sequence information

Variant position:  99
The position of the amino-acid change on the UniProtKB canonical protein sequence.

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

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.

Chain 22 – 822 Fibroblast growth factor receptor 1
Topological domain 22 – 376 Extracellular
Domain 25 – 119 Ig-like C2-type 1
Glycosylation 117 – 117 N-linked (GlcNAc...) asparagine
Disulfide bond 55 – 101
Alternative sequence 1 – 160 Missing. In isoform 10, isoform 11, isoform 12 and isoform 13.
Alternative sequence 31 – 119 Missing. In isoform 6, isoform 7, isoform 8, isoform 9, isoform 15, isoform 17 and isoform 18.
Alternative sequence 62 – 822 Missing. In isoform 3.
Alternative sequence 119 – 119 S -> SVPI. In isoform 19.
Beta strand 97 – 105

Literature citations

Loss-of-function mutations in FGFR1 cause autosomal dominant Kallmann syndrome.
Dode C.; Levilliers J.; Dupont J.-M.; De Paepe A.; Le Du N.; Soussi-Yanicostas N.; Coimbra R.S.; Delmaghani S.; Compain-Nouaille S.; Baverel F.; Pecheux C.; Le Tessier D.; Cruaud C.; Delpech M.; Speleman F.; Vermeulen S.; Amalfitano A.; Bachelot Y.; Bouchard P.; Cabrol S.; Carel J.-C.; Delemarre-van de Waal H.; Goulet-Salmon B.; Kottler M.-L.; Richard O.; Sanchez-Franco F.; Saura R.; Young J.; Petit C.; Hardelin J.-P.;
Nat. Genet. 33:463-465(2003)
Cited for: VARIANTS HH2 ASP-97; CYS-99; SER-167; TYR-277; MET-607; 622-ARG--ARG-822 DEL; ARG-666 AND ARG-719; VARIANT SER-772;

Impaired fibroblast growth factor receptor 1 signaling as a cause of normosmic idiopathic hypogonadotropic hypogonadism.
Raivio T.; Sidis Y.; Plummer L.; Chen H.; Ma J.; Mukherjee A.; Jacobson-Dickman E.; Quinton R.; Van Vliet G.; Lavoie H.; Hughes V.A.; Dwyer A.; Hayes F.J.; Xu S.; Sparks S.; Kaiser U.B.; Mohammadi M.; Pitteloud N.;
J. Clin. Endocrinol. Metab. 94:4380-4390(2009)
Cited for: VARIANTS HH2 CYS-99; SER-117; ASP-228; THR-239; GLN-250; LEU-470; ASN-618 AND PRO-671; CHARACTERIZATION OF VARIANTS HH2 CYS-99; SER-117; ASP-228; THR-239; GLN-250; LEU-470; ASN-618 AND PRO-671;

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.