Variant position: 485 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 QVFRLPGPSRAQCLTTCRSV RERESHSRKSASSCDVSSSPS
Mouse QVFRLPGPSRAQRLATCRSV REQENHSRKSASSCDVSSSPS
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
484 – 527 Disordered
505 – 505 Phosphoserine
Mutations of DEPDC5 cause autosomal dominant focal epilepsies.
Ishida S.; Picard F.; Rudolf G.; Noe E.; Achaz G.; Thomas P.; Genton P.; Mundwiller E.; Wolff M.; Marescaux C.; Miles R.; Baulac M.; Hirsch E.; Leguern E.; Baulac S.;
Nat. Genet. 45:552-555(2013)
Cited for: VARIANT FFEVF1 GLN-485; TISSUE SPECIFICITY;
Preliminary functional assessment and classification of DEPDC5 variants associated with focal epilepsy.
van Kranenburg M.; Hoogeveen-Westerveld M.; Nellist M.;
Hum. Mutat. 36:200-209(2015)
Cited for: VARIANTS FFEVF1 ILE-90; LEU-272; VAL-452; GLN-485; MET-864; ARG-1073 AND GLY-1162; CHARACTERIZATION OF VARIANTS FFEVF1 ILE-90; LEU-272; VAL-452; GLN-485; MET-864; ARG-1073 AND GLY-1162; IDENTIFICATION IN GATOR COMPLEX;
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.