Variant position: 1065 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 1603 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 LEMEASQKCLGEQQAAVHGG KSSAQSAESSSVAMTPTYMDS
Mouse LEMEASQKSLGEQQTTVH-G KSSTQPAENSSVAMTPTYVDS
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 – 1603 GATOR complex protein DEPDC5
560 – 1603 Missing. In isoform 2.
1065 – 1065 K -> R. No effect on ubiquitination. Loss of interaction with KLHL22 and ubiquitination; when associated with R-447, R-710, R-1088 and R-1574.
Involvement of GATOR complex genes in familial focal epilepsies and focal cortical dysplasia.
Weckhuysen S.; Marsan E.; Lambrecq V.; Marchal C.; Morin-Brureau M.; An-Gourfinkel I.; Baulac M.; Fohlen M.; Kallay Zetchi C.; Seeck M.; de la Grange P.; Dermaut B.; Meurs A.; Thomas P.; Chassoux F.; Leguern E.; Picard F.; Baulac S.;
Cited for: INVOLVEMENT IN FFEVF1; VARIANT FFEVF1 ARG-1065;
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