Skip to main content

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
Back to article page

BMC Biochemistry

ISSN: 1471-2091

Contact us