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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.LocationNucleotide changeProtein changeParental originType of changeNoveltySIFTPolyPhen-2Mutation TasterHGMDClinVarFreq in 1000 GenomeFreq in ExACReference
1Exon 6c.623_626 delp.Asp208Val
paternalhetnovelN/AN/A1NDNDNDNDThis study
2Exon 11c.1399 G > Cp.Gly467Argmaternalhetreported011CM
  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