Variant position: 1104 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 DSPRKDGAFFMEFVRSPRTA SSAFYPQVSVDQTATPMLDGT
Mouse DSPRKDGAFFMEFVRSPRTA SSAFYPQASVDQTAPLVLDST
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.
1089 – 1110 Missing. In isoform 1, isoform 4 and isoform 8.
1088 – 1088 K -> R. No effect on ubiquitination. Loss of interaction with KLHL22 and ubiquitination; when associated with R-447, R-710, R-1065 and R-1574.
Mutations in DEPDC5 cause familial focal epilepsy with variable foci.
Dibbens L.M.; de Vries B.; Donatello S.; Heron S.E.; Hodgson B.L.; Chintawar S.; Crompton D.E.; Hughes J.N.; Bellows S.T.; Klein K.M.; Callenbach P.M.; Corbett M.A.; Gardner A.E.; Kivity S.; Iona X.; Regan B.M.; Weller C.M.; Crimmins D.; O'Brien T.J.; Guerrero-Lopez R.; Mulley J.C.; Dubeau F.; Licchetta L.; Bisulli F.; Cossette P.; Thomas P.Q.; Gecz J.; Serratosa J.; Brouwer O.F.; Andermann F.; Andermann E.; van den Maagdenberg A.M.; Pandolfo M.; Berkovic S.F.; Scheffer I.E.;
Nat. Genet. 45:546-551(2013)
Cited for: VARIANTS FFEVF1 VAL-452; ARG-1073 AND LEU-1104; INVOLVEMENT IN FFEVF1;
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.