Sequence information
Variant position: 114 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 243 The length of the canonical sequence.
Location on the sequence:
DGTKDENSDYTLFNLIPVGL
R VVAIQGVKASLYVAMNGEGY
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 DGTKDENSDYTLFNLIPVGLR VVAIQGVKASLYVAMNGEGY
Mouse DGTKDENSDYTLFNLIPVGLR VVAIQGVKASLYVAMNGEGY
Rat DGTKDENSDYTLFNLIPVGLR VVAIQGVKASLYVAMNGEGY
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.
Type Positions Description
Chain
1 – 243
Fibroblast growth factor 12
Mutagenesis
114 – 114
R -> A. Gain of function, affects voltage dependence of SCN8A fast inactivation.
Mutagenesis
114 – 114
R -> G. Gain of function, affects voltage dependence of SCN8A fast inactivation.
Literature citations
Gain-of-function FHF1 mutation causes early-onset epileptic encephalopathy with cerebellar atrophy.
Siekierska A.; Isrie M.; Liu Y.; Scheldeman C.; Vanthillo N.; Lagae L.; de Witte P.A.; Van Esch H.; Goldfarb M.; Buyse G.M.;
Neurology 86:2162-2170(2016)
Cited for: FUNCTION; INVOLVEMENT IN DEE47; VARIANT DEE47 HIS-114; CHARACTERIZATION OF VARIANT DEE47 HIS-114; MUTAGENESIS OF ARG-114;
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.