Expasy logo

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q92913: Variant p.Arg11Cys

Fibroblast growth factor 13
Gene: FGF13
Feedback?
Variant information Variant position: help 11 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 Arginine (R) to Cysteine (C) at position 11 (R11C, p.Arg11Cys). 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 basic (R) to medium size and polar (C) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -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: help In DEE90; loss of ability to induce SCN8A long-term inactivation; no effect on pro-excitatory properties; no effect on interaction with SCN8A. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 11 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 245 The length of the canonical sequence.
Location on the sequence: help MAAAIASSLI R QKRQAREREKSNACKCVSSP 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                         MAAAIASSLIRQKRQAREREKSNACKCVSSP

Mouse                         MAAAIASSLIRQKRQAREREKSNACKCVSSP

Rat                           MAAAIASSLIRQKRQAREREKSNACKCVSSP

Xenopus laevis                MAAAIASSLIRQKRQAREREKSNACKCVSSP
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 1 – 245 Fibroblast growth factor 13
Region 1 – 62 Mediates targeting to the nucleus
Region 1 – 36 Disordered
Alternative sequence 1 – 62 MAAAIASSLIRQKRQAREREKSNACKCVSSPSKGKTSCDKNKLNVFSRVKLFGSKKRRRRRP -> MALLRKSYS. In isoform 2.
Alternative sequence 1 – 62 MAAAIASSLIRQKRQAREREKSNACKCVSSPSKGKTSCDKNKLNVFSRVKLFGSKKRRRRRP -> MSGKVTKPKEEKDASKVLDDAPPGTQEYIMLRQDSIQSAELKKKESPFRAKCHEIFCCPLKQVHHKENTEPE. In isoform 3.
Alternative sequence 1 – 62 MAAAIASSLIRQKRQAREREKSNACKCVSSPSKGKTSCDKNKLNVFSRVKLFGSKKRRRRRP -> MSGKVTKPKEEKDASK. In isoform 4.
Alternative sequence 1 – 62 MAAAIASSLIRQKRQAREREKSNACKCVSSPSKGKTSCDKNKLNVFSRVKLFGSKKRRRRRP -> MLRQDSIQSAELKKKESPFRAKCHEIFCCPLKQVHHKENTEPE. In isoform 5.



Literature citations
Missense variants in the N-terminal domain of the A isoform of FHF2/FGF13 cause an X-linked developmental and epileptic encephalopathy.
Fry A.E.; Marra C.; Derrick A.V.; Pickrell W.O.; Higgins A.T.; Te Water Naude J.; McClatchey M.A.; Davies S.J.; Metcalfe K.A.; Tan H.J.; Mohanraj R.; Avula S.; Williams D.; Brady L.I.; Mesterman R.; Tarnopolsky M.A.; Zhang Y.; Yang Y.; Wang X.; Rees M.I.; Goldfarb M.; Chung S.K.;
Am. J. Hum. Genet. 108:176-185(2021)
Cited for: VARIANTS DEE90 CYS-11; PRO-11 AND THR-14; CHARACTERIZATION OF VARIANTS DEE90 CYS-11 AND THR-14; INVOLVEMENT IN DEE90; FUNCTION; INTERACTION WITH SCN8A;
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.