Variant position: 92 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 569 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 ILATKSEMCGQKFELKIDNV RFVGHPTLLQHALGQISKTDP-------------------------------
Mouse ILATKSEMCGQKFELKIDNV RFVGHPTLLQHALGQVSKTDP
Caenorhabditis elegans VFKTQEIACNDGFDMKINNQ RFVAYPKT------WKARGES
Drosophila LFAVKPQLCNQKFELKLNDV RFVSHPTLIPQ---KEQRSGP
Fission yeast MLSPRIELCNQKFEIWVDGL TFLGCPVHIGPNGEWAKRRKP
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 – 569 GATOR complex protein NPRL3
Mutations in the mammalian target of rapamycin pathway regulators NPRL2 and NPRL3 cause focal epilepsy.
Ricos M.G.; Hodgson B.L.; Pippucci T.; Saidin A.; Ong Y.S.; Heron S.E.; Licchetta L.; Bisulli F.; Bayly M.A.; Hughes J.; Baldassari S.; Palombo F.; Santucci M.; Meletti S.; Berkovic S.F.; Rubboli G.; Thomas P.Q.; Scheffer I.E.; Tinuper P.; Geoghegan J.; Schreiber A.W.; Dibbens L.M.;
Ann. Neurol. 79:120-131(2016)
Cited for: INVOLVEMENT IN FFEVF3; VARIANTS FFEVF3 GLN-92 AND LYS-249; TISSUE SPECIFICITY;
Familial cortical dysplasia caused by mutation in the mammalian target of rapamycin regulator NPRL3.
Sim J.C.; Scerri T.; Fanjul-Fernandez M.; Riseley J.R.; Gillies G.; Pope K.; van Roozendaal H.; Heng J.I.; Mandelstam S.A.; McGillivray G.; MacGregor D.; Kannan L.; Maixner W.; Harvey A.S.; Amor D.J.; Delatycki M.B.; Crino P.B.; Bahlo M.; Lockhart P.J.; Leventer R.J.;
Ann. Neurol. 79:132-137(2016)
Cited for: INVOLVEMENT IN FFEVF3; VARIANT FFEVF3 GLN-92;
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