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UniProtKB/Swiss-Prot Q9GZV9: Variant p.Ser129Phe

Fibroblast growth factor 23
Gene: FGF23
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 Serine (S) to Phenylalanine (F) at position 129 (S129F, p.Ser129Phe).
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 small size and polar (S) to large size and aromatic (F)
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 HFTC2; full-length and N-terminal fragments are barely detectable, whereas a C-terminal fragment with the same molecular weight as that from wild-type can be detected.
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:  251
The length of the canonical sequence.

Location on the sequence:   DPENCRFQHQTLENGYDVYH  S PQYHFLVSLGRAKRAFLPGM
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: 
The multiple alignment of the region surrounding the variant against various orthologous sequences.

Human                         DPENCRFQHQTLENGYDVYHSPQYHFLVSLGRAKRAFLPGM

Mouse                         SPENCKFRQWTLENGYDVYLSQKHHYLVSLGRAKRIFQPGT

Rat                           SPENCRFRQWTLENGYDVYLSPKHHYLVSLGRSKRIFQPGT

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 25 – 251 Fibroblast growth factor 23
Chain 25 – 179 Fibroblast growth factor 23 N-terminal peptide


Literature citations

A novel mutation in fibroblast growth factor 23 gene as a cause of tumoral calcinosis.
Araya K.; Fukumoto S.; Backenroth R.; Takeuchi Y.; Nakayama K.; Ito N.; Yoshii N.; Yamazaki Y.; Yamashita T.; Silver J.; Igarashi T.; Fujita T.;
J. Clin. Endocrinol. Metab. 90:5523-5527(2005)
Cited for: VARIANT HFTC2 PHE-129; CHARACTERIZATION OF VARIANT HFTC2 PHE-129;

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.