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Table 2 Analysis and in silico prediction of the ETFDH gene variants of the infant

From: A novel electron transfer flavoprotein dehydrogenase (ETFDH) gene mutation identified in a newborn with glutaric acidemia type II: a case report of a Chinese family

No.

Location

Nucleotide change

Protein change

Parental origin

Type of change

Novelty

SIFT

PolyPhen-2

Mutation Taster

HGMD

ClinVar

Freq in 1000 Genome

Freq in ExAC

Reference

1

Exon 6

c.623_626 del

p.Asp208Val

fs*3

paternal

het

novel

N/A

N/A

1

ND

ND

ND

ND

This study

2

Exon 11

c.1399 G > C

p.Gly467Arg

maternal

het

reported

0

1

1

CM

093457

ND

ND

ND

[20]

  1. The reference sequence used in this study was based on the NCBI37/hg19 assembly of the human genome. NM_004453.2 was employed as reference sequence for ETFDH. ND no data, N/A not available