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Table 1 Method of whole-exome sequencing and the PPP1CB mutation identified in the patient

From: Epileptic spasms in PPP1CB-associated Noonan-like syndrome: a case report with clinical and therapeutic implications

Patient ID

Variant with NM No.

AF in

Mutation pathogenicity prediction

1KGP

gnomAD

Polyphen HDIV score (pred)

SIFT_score (pred)

LRT score (pred)

Mutation Taster score (pred)

Reference

LCY03

PPP1CB: NM_206876.1: c.548A > C (p.Glu183Ala)

–

–

0.014(B)

0.01(D)

0(D)

0.81 (D)

Ma et al. [3].

  1. Pred prediction, AF allele frequency, 1KGP 1000 Genomes Project; gnomAD The Genome Aggregation Database; −, not present, B, benign D deleterious, SIFT sorting intolerant from tolerant, LRT Likelihood Ratio Test
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BMC Neurology

ISSN: 1471-2377

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