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UniProtKB/Swiss-Prot P11362: Variant p.Asp129Ala

Fibroblast growth factor receptor 1
Gene: FGFR1
Variant information

Variant position:  129
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 Alanine (A) at position 129 (D129A, p.Asp129Ala).
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 small size and hydrophobic (A)
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.
Any additional useful information about the variant.

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



Sequence information

Variant position:  129
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:   SDTTYFSVNVSDALPSSEDD  D DDDDSSSEEKETDNTKPNRM
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 22 – 376 Extracellular
Region 120 – 154 Disordered
Compositional bias 123 – 137 Acidic residues
Glycosylation 117 – 117 N-linked (GlcNAc...) asparagine
Alternative sequence 1 – 160 Missing. In isoform 10, isoform 11, isoform 12 and isoform 13.
Alternative sequence 62 – 822 Missing. In isoform 3.
Alternative sequence 119 – 119 S -> SVPI. In isoform 19.
Alternative sequence 120 – 150 DALPSSEDDDDDDDSSSEEKETDNTKPNRMP -> ACPDLQEAKWCSASFHSITPLPFGLGTRLSD. In isoform 16.


Literature citations

Kallmann syndrome: 14 novel mutations in KAL1 and FGFR1 (KAL2).
Albuisson J.; Pecheux C.; Carel J.-C.; Lacombe D.; Leheup B.; Lapuzina P.; Bouchard P.; Legius E.; Matthijs G.; Wasniewska M.; Delpech M.; Young J.; Hardelin J.-P.; Dode C.;
Hum. Mutat. 25:98-99(2005)
Cited for: VARIANTS HH2 ILE-102; ALA-129; MET-273 AND THR-520;

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.