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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P23352: Variant p.Phe517Leu

Anosmin-1
Gene: ANOS1
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Variant information Variant position: help 517 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 Leucine (L) at position 517 (F517L, p.Phe517Leu). 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 (L) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help 0 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 HH1; phenotype consistent with Kallmann syndrome; loss of effect on the migratory activity of GnRH neurons; Reduced FGFR1-binding. Any additional useful information about the variant.


Sequence information Variant position: help 517 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 680 The length of the canonical sequence.
Location on the sequence: help KYKVTVQPIRPKSHSKAEAV F FTTPPCSALKGKSHKPVGCL 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                         KYKVTVQPIRPKSHSKAEAVFFTTPPCSALKGKSHKPVGCL

Chicken                       KYKVTVLPAKSKSRFKAESIFFVTPSCSAFKEKTHKHINCA
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 25 – 680 Anosmin-1
Domain 425 – 523 Fibronectin type-III 3



Literature citations
Novel mechanisms of fibroblast growth factor receptor 1 regulation by extracellular matrix protein anosmin-1.
Hu Y.; Guimond S.E.; Travers P.; Cadman S.; Hohenester E.; Turnbull J.E.; Kim S.H.; Bouloux P.M.;
J. Biol. Chem. 284:29905-29920(2009)
Cited for: FUNCTION; INTERACTION WITH FGFR1; CHARACTERIZATION OF VARIANTS HH1 LYS-267; LYS-514 AND LEU-517; HEPARIN-BINDING; Genetic heterogeneity evidenced by low incidence of KAL-1 gene mutations in sporadic cases of gonadotropin-releasing hormone deficiency.
Georgopoulos N.A.; Pralong F.P.; Seidman C.E.; Seidman J.G.; Crowley W.F. Jr.; Vallejo M.;
J. Clin. Endocrinol. Metab. 82:213-217(1997)
Cited for: VARIANT HH1 LEU-517; VARIANTS ILE-534 AND HIS-668; The product of X-linked Kallmann's syndrome gene (KAL1) affects the migratory activity of gonadotropin-releasing hormone (GnRH)-producing neurons.
Cariboni A.; Pimpinelli F.; Colamarino S.; Zaninetti R.; Piccolella M.; Rumio C.; Piva F.; Rugarli E.I.; Maggi R.;
Hum. Mol. Genet. 13:2781-2791(2004)
Cited for: CHARACTERIZATION OF VARIANTS HH1 LYS-267; LYS-514 AND LEU-517;
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.