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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q8WTW4: Variant p.Thr110Ser

GATOR1 complex protein NPRL2
Gene: NPRL2
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Variant information Variant position: help 110 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help US The variants are classified into three categories: LP/P, LB/B and US.
  • LP/P: likely pathogenic or pathogenic.
  • LB/B: likely benign or benign.
  • US: uncertain significance

Residue change: help From Threonine (T) to Serine (S) at position 110 (T110S, p.Thr110Ser). Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.
Physico-chemical properties: help Change from medium size and polar (T) to small size and polar (S) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help 1 The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:
  • Lowest score: -4 (low probability of substitution).
  • Highest score: 11 (high probability of substitution).
More information can be found on the following page

Variant description: help In FFEVF2; uncertain significance. Any additional useful information about the variant.


Sequence information Variant position: help 110 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 380 The length of the canonical sequence.
Location on the sequence: help DAQAKTCALEPIVKKLAGYL T TLELESSFVSMEESKQKLVP 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: help The multiple alignment of the region surrounding the variant against various orthologous sequences.
Human                         DAQAKTCALEPIVKKLAGYLTTLELESSFVSMEESKQKLVP

Mouse                         DAQAKTCALEPIVKKLAGYLTTLELESSFVSNEESKQKLVP

Bovine                        DAQAKTCALEPIVKKLAGYLTTLELESSFVSTEESKQKLVP

Drosophila                    DSRARSVQYEPVVKKLSEYLIMMEEESCFLSREDDKRRLQN

Sequence annotation in neighborhood: help 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.
TypePositionsDescription
Chain 1 – 380 GATOR1 complex protein NPRL2
Region 1 – 133 Interaction with PDPK1
Site 124 – 124 Arginine finger
Alternative sequence 1 – 120 Missing. In isoform 2.
Helix 99 – 116



Literature citations
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 FFEVF2; VARIANTS FFEVF2 PRO-105; SER-110 AND HIS-214; TISSUE SPECIFICITY;
Disclaimer: 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.