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:
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 DGTKDENSDYTLFNLIPVGL RVVAIQGVKASLYVAMNGEGY
Mouse DGTKDENSDYTLFNLIPVGL RVVAIQGVKASLYVAMNGEGY
Rat DGTKDENSDYTLFNLIPVGL RVVAIQGVKASLYVAMNGEGY
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
1 – 243 Fibroblast growth factor 12
114 – 114 R -> A. Gain of function, affects voltage dependence of SCN8A fast inactivation.
114 – 114 R -> G. Gain of function, affects voltage dependence of SCN8A fast inactivation.
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.;
Cited for: FUNCTION; INVOLVEMENT IN DEE47; VARIANT DEE47 HIS-114; CHARACTERIZATION OF VARIANT DEE47 HIS-114; MUTAGENESIS OF ARG-114;
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