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Table 1 Summary of results from SIFT, PolyPhen, secretion and subcellular localization studies.

From: Similarity of molecular phenotype between known epilepsy gene LGI1 and disease candidate gene LGI2

  Mutation^ Position SIFT result, score Polyphen result, score difference Secretion studies Subcellular localization studies
LGI2 I24T SP Tolerated, 0.06 Benign, 1.125 -* -*
  K347E EAR Deleterious, 0 Possibly damaging, 1.903 -* -*
  R444Q EAR Tolerated, 0.07 Benign, 1.342 -* -*
  Q452R EAR Tolerated, 0.63 Benign, 0.366 -* -*
  V420E (corresponds to LGI1 V432E) EAR Deleterious, 0 Probably damaging, 2.173 +* ER-retention*
LGI1 L26R (artificial mutation) SP Tolerated, 0.34 Benign, 1.350 +* ER-retention*
  C42G LRRNT Deleterious, 0 Probably damaging, 2.700 N/A N/A
  C42R LRRNT Deleterious, 0 Probably damaging, 2.700 +* ER-retention*
  C46R LRRNT Deleterious, 0 Probably damaging, 3.833 + [8] N/A
  A110D LRR Deleterious, 0 Probably damaging, 2.026 + [10] N/A
  I122K LRR Deleterious, 0 Probably damaging, 2.741 + [47] N/A
  E123K LRR Deleterious, 0 Possibly damaging, 1.841 N/A N/A
  R136W LRR Deleterious, 0 Probably damaging, 2.877 + [10] N/A
  S145R LRR Deleterious, 0 Probably damaging, 2.174 + [8] N/A
  L154P LRR Deleterious, 0 Probably damaging, 2.467 +* ER-retention*
  C200R LRRCT Deleterious, 0 Probably damaging, 3.833 + [8] N/A
  L232P EAR Deleterious, 0 Probably damaging, 2.052 + [9] N/A
  I298T EAR Deleterious, 0.01 Possibly damaging, 1.910 N/A N/A
  F318C EAR Deleterious, 0 Probably damaging, 2.419 + [8] ER-retention [8]
  E383A EAR Deleterious, 0 Probably damaging, 2.249 + [8] ER-retention [8]
  V432E EAR Deleterious, 0 Probably damaging, 2.173 +* ER-retention*
  S473L EAR Deleterious, 0 Probably damaging, 2.399 N/A N/A
  K353E (corresponds to LGI2 K347E) EAR Deleterious, 0 Possibly damaging, 1.852 -* -*
  1. SIFT: Sorting Intolerant From Tolerant, PolyPhen: prediction of functional effect of human nsSNPs
  2. SP: signal peptide, LRRNT: leucine rich repeat N-terminal domain, LRR: leucine-rich repeat,
  3. LRRCT: leucine rich repeat C-terminal domain, EAR: epilepsy-associated repeat
  4. ^ mutation in bold letter means missense mutation found in ADLTE, numbering corresponds to Genbank entries NP_005088.1 for LGI1 and NP_060646.2 for LGI2
  5. + affect secretion, - does not affect secretion or subcellular localization, * determined in this study