Skip to main content

Table 2 The predictions for COG1 mutations using various software

From: Component of oligomeric Golgi complex 1 deficiency leads to hypoglycemia: a case report and literature review

Software

c.1070 + 3A > G (splicing)

c.2492G > A (p.Arg831Gln)

VarSome

Likely Benign

Uncertain significance

DANN

Score:0.8675

Score:0.9912

dbscSNV

ADA Score:0.001334

N/A

Mutation Taster

N/A

Disease-causing

Mutation assessor

N/A

Medium

FATHMM-MKL

N/A

Damaging

LRT

N/A

Deleterious

DEOGEN2

N/A

Tolerated

EIGEN

N/A

Pathogenic

EIGEN PC

N/A

Pathogenic

SIFT

N/A

Damaging

SIFT4G

N/A

Damaging

  1. c. 1070 + 3A > G, the nucleotide of 1070 + 3 in the coding region was mutated from adenine to guanine; c.2492G > A, the nucleotide of 2492 in the coding region was mutated from guanine to adenine; p.Arg831Gln, amino acid 831 changed from arginine to glutamine
Back to article page

BMC Pediatrics

ISSN: 1471-2431

Contact us