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Table 1 Genetic features of the individual with PIGN mutations

From: Damaging novel mutations in PIGN cause developmental epileptic-dyskinetic encephalopathy: a case report

Position

cDNA change

(NM_176787)

Protein change

MAF

MAF-EAS

Mutation taster

SIFT

CADD

Polyphen2

FATHMM

GERP +  + 

PhastCons

ClinPred

chr18:59,828,424

163C > T

R55X

4.88e-05

3.0e-04

DC (1.00)

-

D (36)

-

D (0.92)

C (2.83)

C (1.00)

-

chr18:59,824,980

283C > T

R95W

0

0

DC (1.00)

D (0)

D (34)

PD (1.00)

D (0.94)

C (4.51)

C (1.00)

P (0.99)

  1. Abbreviations: C Conserved, CADD Combined annotation dependent depletion, D Damaging, DC Disease causing, Chr Chromosome, MAF Minor allele frequency from Genome Aggregation Database, MAF-EAS Minor allele frequency from East Asia population in Genome Aggregation Database, NA Not applicable, P Pathogenic, PD Probably damaging
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BMC Pediatrics

ISSN: 1471-2431

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